Canonical Allele Identifier: CA242510182
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs992663955
gnomAD v3: 12-102895051-T-TA
gnomAD v4: 12-102895051-T-TA
MyVariant Identifiers: chr12:g.103288829_103288830insA (hg19) chr12:g.102895051_102895052insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102895057dup , CM000674.2:g.102895057dup GRCh38
NC_000012.11:g.103288835dup , CM000674.1:g.103288835dup GRCh37
NC_000012.10:g.101812965dup NCBI36
NG_008690.1:g.27551dup
NG_008690.2:g.68359dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.169-134dup MANE Select ENSP00000448059.1:n.169-134dup
ENST00000307000.7:c.154-134dup ENSP00000303500.2:n.154-134dup
ENST00000546844.1:c.169-134dup ENSP00000446658.1:n.169-134dup
ENST00000548677.2:n.256-134dup
ENST00000548928.1:n.91-134dup
ENST00000549111.5:n.265-134dup
ENST00000550978.6:c.153-134dup
ENST00000551337.5:c.169-134dup ENSP00000447620.1:n.169-134dup
ENST00000551988.5:n.258-134dup
ENST00000553106.5:c.169-134dup ENSP00000448059.1:n.169-134dup
ENST00000635500.1:n.137-134dup
NM_000277.1:c.169-134dup NP_000268.1:n.169-134dup
XM_011538422.1:c.169-134dup XP_011536724.1:n.169-134dup
NM_000277.2:c.169-134dup NP_000268.1:n.169-134dup
NM_001354304.1:c.169-134dup NP_001341233.1:n.169-134dup
XM_017019370.2:c.169-134dup XP_016874859.1:n.169-134dup
NM_000277.3:c.169-134dup MANE Select NP_000268.1:n.169-134dup
NM_001354304.2:c.169-134dup NP_001341233.1:n.169-134dup
Search 100 bp 5'
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