Canonical Allele Identifier: CA242492986
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1010831842
gnomAD v2: 12-103271153-A-C
gnomAD v3: 12-102877375-A-C
gnomAD v4: 12-102877375-A-C
MyVariant Identifiers: chr12:g.103271153A>C (hg19) chr12:g.102877375A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877375A>C , CM000674.2:g.102877375A>C GRCh38
NC_000012.11:g.103271153A>C , CM000674.1:g.103271153A>C GRCh37
NC_000012.10:g.101795283A>C NCBI36
NG_008690.1:g.45228T>G
NG_008690.2:g.86036T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.441+87T>G MANE Select ENSP00000448059.1:n.441+87T>G
ENST00000307000.7:c.426+87T>G ENSP00000303500.2:n.426+87T>G
ENST00000549111.5:n.537+87T>G
ENST00000550978.6:c.512T>G
ENST00000551988.5:n.530+87T>G
ENST00000553106.5:c.441+87T>G ENSP00000448059.1:n.441+87T>G
NM_000277.1:c.441+87T>G NP_000268.1:n.441+87T>G
XM_011538422.1:c.441+87T>G XP_011536724.1:n.441+87T>G
NM_000277.2:c.441+87T>G NP_000268.1:n.441+87T>G
NM_001354304.1:c.441+87T>G NP_001341233.1:n.441+87T>G
XM_017019370.2:c.441+87T>G XP_016874859.1:n.441+87T>G
NM_000277.3:c.441+87T>G MANE Select NP_000268.1:n.441+87T>G
NM_001354304.2:c.441+87T>G NP_001341233.1:n.441+87T>G
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