Canonical Allele Identifier: CA386493447

Gene: PAH

Linked Data

• gnomAD v4: 12-102844385-G-C
• MyVariant Identifiers: chr12:g.103238163G>C (hg19) ; chr12:g.102844385G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844385G>C , CM000674.2:g.102844385G>C	GRCh38
NC_000012.11:g.103238163G>C , CM000674.1:g.103238163G>C	GRCh37
NC_000012.10:g.101762293G>C	NCBI36
NG_008690.1:g.78218C>G
NG_008690.2:g.119026C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1016C>G MANE Select	ENSP00000448059.1:p.Ser339Cys
ENST00000307000.7:c.1001C>G	ENSP00000303500.2:p.Ser334Cys
ENST00000549247.6:n.775C>G
ENST00000551114.2:n.678C>G
ENST00000553106.5:c.1016C>G	ENSP00000448059.1:p.Ser339Cys
ENST00000635477.1:c.120C>G
ENST00000635528.1:n.531C>G
NM_000277.1:c.1016C>G	NP_000268.1:p.Ser339Cys
XM_011538422.1:c.959C>G	XP_011536724.1:p.Ser320Cys
NM_000277.2:c.1016C>G	NP_000268.1:p.Ser339Cys
NM_001354304.1:c.1016C>G	NP_001341233.1:p.Ser339Cys
NM_000277.3:c.1016C>G MANE Select	NP_000268.1:p.Ser339Cys
NM_001354304.2:c.1016C>G	NP_001341233.1:p.Ser339Cys