Canonical Allele Identifier: CA6748966

Gene: PAH

Linked Data

• dbSNP Id: rs374999809
• ExAC: 12:103271325 G / C
• gnomAD v2: 12-103271325-G-C
• gnomAD v4: 12-102877547-G-C
• COSMIC: COSM5791223
• MyVariant Identifiers: chr12:g.103271325G>C (hg19) ; chr12:g.102877547G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102877547G>C , CM000674.2:g.102877547G>C	GRCh38
NC_000012.11:g.103271325G>C , CM000674.1:g.103271325G>C	GRCh37
NC_000012.10:g.101795455G>C	NCBI36
NG_008690.1:g.45056C>G
NG_008690.2:g.85864C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.356C>G MANE Select	ENSP00000448059.1:p.Pro119Arg
ENST00000307000.7:c.341C>G	ENSP00000303500.2:p.Pro114Arg
ENST00000549111.5:n.452C>G
ENST00000550978.6:c.340C>G
ENST00000551337.5:c.356C>G	ENSP00000447620.1:p.Pro119Arg
ENST00000551988.5:n.445C>G
ENST00000553106.5:c.356C>G	ENSP00000448059.1:p.Pro119Arg
NM_000277.1:c.356C>G	NP_000268.1:p.Pro119Arg
XM_011538422.1:c.356C>G	XP_011536724.1:p.Pro119Arg
NM_000277.2:c.356C>G	NP_000268.1:p.Pro119Arg
NM_001354304.1:c.356C>G	NP_001341233.1:p.Pro119Arg
XM_017019370.2:c.356C>G	XP_016874859.1:p.Pro119Arg
NM_000277.3:c.356C>G MANE Select	NP_000268.1:p.Pro119Arg
NM_001354304.2:c.356C>G	NP_001341233.1:p.Pro119Arg