Canonical Allele Identifier: CA180265

Gene: PAH

Linked Data

• ClinVar Variation Id: 167413
• ClinVar RCV Id: RCV000153631 ; RCV001514088
• dbSNP Id: rs772897
• ExAC: 12:103237468 G / C
• gnomAD v2: 12-103237468-G-C
• gnomAD v3: 12-102843690-G-C
• gnomAD v4: 12-102843690-G-C
• MyVariant Identifiers: chr12:g.103237468G>C (hg19) ; chr12:g.102843690G>C (hg38)
• ERepo: CA180265/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843690G>C , CM000674.2:g.102843690G>C	GRCh38
NC_000012.11:g.103237468G>C , CM000674.1:g.103237468G>C	GRCh37
NC_000012.10:g.101761598G>C	NCBI36
NG_008690.2:g.119721C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1155C>G MANE Select	ENSP00000448059.1:p.Leu385=
ENST00000307000.7:c.1140C>G	ENSP00000303500.2:p.Leu380=
ENST00000549247.6:n.914C>G
ENST00000551114.2:n.817C>G
ENST00000553106.5:c.1155C>G	ENSP00000448059.1:p.Leu385=
ENST00000635477.1:c.259C>G
ENST00000635528.1:n.670C>G
XM_011538422.1:c.1098C>G	XP_011536724.1:p.Leu366=
NM_000277.2:c.1155C>G	NP_000268.1:p.Leu385=
NM_001354304.1:c.1155C>G	NP_001341233.1:p.Leu385=
NM_000277.3:c.1155C>G MANE Select	NP_000268.1:p.Leu385=
NM_001354304.2:c.1155C>G	NP_001341233.1:p.Leu385=