Canonical Allele Identifier: CA481330839
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1305365408
gnomAD v2: 12-103240703-T-G
gnomAD v4: 12-102846925-T-G
MyVariant Identifiers: chr12:g.103240703T>G (hg19) chr12:g.102846925T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846925T>G , CM000674.2:g.102846925T>G GRCh38
NC_000012.11:g.103240703T>G , CM000674.1:g.103240703T>G GRCh37
NC_000012.10:g.101764833T>G NCBI36
NG_008690.1:g.75678A>C
NG_008690.2:g.116486A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.939A>C MANE Select ENSP00000448059.1:p.Ala313=
ENST00000307000.7:c.924A>C ENSP00000303500.2:p.Ala308=
ENST00000549247.6:n.698A>C
ENST00000551114.2:n.601A>C
ENST00000553106.5:c.939A>C ENSP00000448059.1:p.Ala313=
ENST00000635477.1:c.74-2494A>C
ENST00000635528.1:n.454A>C
NM_000277.1:c.939A>C NP_000268.1:p.Ala313=
XM_011538422.1:c.913-2494A>C XP_011536724.1:n.913-2494A>C
NM_000277.2:c.939A>C NP_000268.1:p.Ala313=
NM_001354304.1:c.939A>C NP_001341233.1:p.Ala313=
NM_000277.3:c.939A>C MANE Select NP_000268.1:p.Ala313=
NM_001354304.2:c.939A>C NP_001341233.1:p.Ala313=
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