Canonical Allele Identifier: CA682823708
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1240298166
MyVariant Identifiers: chr12:g.103238473_103238474insTC (hg19) chr12:g.102844695_102844696insTC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844701_102844702dup , CM000674.2:g.102844701_102844702dup GRCh38
NC_000012.11:g.103238479_103238480dup , CM000674.1:g.103238479_103238480dup GRCh37
NC_000012.10:g.101762609_101762610dup NCBI36
NG_008690.1:g.77906_77907dup
NG_008690.2:g.118714_118715dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.970-266_970-265dup MANE Select ENSP00000448059.1:n.970-266_970-265dup
ENST00000307000.7:c.955-266_955-265dup ENSP00000303500.2:n.955-266_955-265dup
ENST00000549247.6:n.729-266_729-265dup
ENST00000551114.2:n.632-266_632-265dup
ENST00000553106.5:c.970-266_970-265dup ENSP00000448059.1:n.970-266_970-265dup
ENST00000635477.1:c.74-266_74-265dup
ENST00000635528.1:n.485-266_485-265dup
NM_000277.1:c.970-266_970-265dup NP_000268.1:n.970-266_970-265dup
XM_011538422.1:c.913-266_913-265dup XP_011536724.1:n.913-266_913-265dup
NM_000277.2:c.970-266_970-265dup NP_000268.1:n.970-266_970-265dup
NM_001354304.1:c.970-266_970-265dup NP_001341233.1:n.970-266_970-265dup
NM_000277.3:c.970-266_970-265dup MANE Select NP_000268.1:n.970-266_970-265dup
NM_001354304.2:c.970-266_970-265dup NP_001341233.1:n.970-266_970-265dup
Search 100 bp 5'
Search 100 bp 3'