Canonical Allele Identifier: CA242744123
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs932682208
gnomAD v2: 12-103237152-T-A
gnomAD v3: 12-102843374-T-A
gnomAD v4: 12-102843374-T-A
MyVariant Identifiers: chr12:g.103237152T>A (hg19) chr12:g.102843374T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843374T>A , CM000674.2:g.102843374T>A GRCh38
NC_000012.11:g.103237152T>A , CM000674.1:g.103237152T>A GRCh37
NC_000012.10:g.101761282T>A NCBI36
NG_008690.1:g.79229A>T
NG_008690.2:g.120037A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1199+272A>T MANE Select ENSP00000448059.1:n.1199+272A>T
ENST00000307000.7:c.1184+272A>T ENSP00000303500.2:n.1184+272A>T
ENST00000549247.6:n.958+272A>T
ENST00000551114.2:n.861+272A>T
ENST00000553106.5:c.1199+272A>T ENSP00000448059.1:n.1199+272A>T
ENST00000635477.1:c.303+272A>T
ENST00000635528.1:n.714+272A>T
NM_000277.1:c.1199+272A>T NP_000268.1:n.1199+272A>T
XM_011538422.1:c.1142+272A>T XP_011536724.1:n.1142+272A>T
NM_000277.2:c.1199+272A>T NP_000268.1:n.1199+272A>T
NM_001354304.1:c.1199+272A>T NP_001341233.1:n.1199+272A>T
NM_000277.3:c.1199+272A>T MANE Select NP_000268.1:n.1199+272A>T
NM_001354304.2:c.1199+272A>T NP_001341233.1:n.1199+272A>T
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