Canonical Allele Identifier: CA682803303

Gene: PAH

Linked Data

• dbSNP Id: rs1463208622
• gnomAD v3: 12-102851264-T-G
• gnomAD v4: 12-102851264-T-G
• MyVariant Identifiers: chr12:g.103245042T>G (hg19) ; chr12:g.102851264T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851264T>G , CM000674.2:g.102851264T>G	GRCh38
NC_000012.11:g.103245042T>G , CM000674.1:g.103245042T>G	GRCh37
NC_000012.10:g.101769172T>G	NCBI36
NG_008690.1:g.71339A>C
NG_008690.2:g.112147A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.912+423A>C MANE Select	ENSP00000448059.1:n.912+423A>C
ENST00000307000.7:c.897+423A>C	ENSP00000303500.2:n.897+423A>C
ENST00000549247.6:n.671+423A>C
ENST00000551114.2:n.574+423A>C
ENST00000553106.5:c.912+423A>C	ENSP00000448059.1:n.912+423A>C
ENST00000635477.1:c.73+423A>C
NM_000277.1:c.912+423A>C	NP_000268.1:n.912+423A>C
XM_011538422.1:c.912+423A>C	XP_011536724.1:n.912+423A>C
NM_000277.2:c.912+423A>C	NP_000268.1:n.912+423A>C
NM_001354304.1:c.912+423A>C	NP_001341233.1:n.912+423A>C
NM_000277.3:c.912+423A>C MANE Select	NP_000268.1:n.912+423A>C
NM_001354304.2:c.912+423A>C	NP_001341233.1:n.912+423A>C