Canonical Allele Identifier: CA6748944

Gene: PAH

Linked Data

• dbSNP Id: rs770251826
• ExAC: 12:103271218 A / T
• gnomAD v4: 12-102877440-A-T
• MyVariant Identifiers: chr12:g.103271218A>T (hg19) ; chr12:g.102877440A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102877440A>T , CM000674.2:g.102877440A>T	GRCh38
NC_000012.11:g.103271218A>T , CM000674.1:g.103271218A>T	GRCh37
NC_000012.10:g.101795348A>T	NCBI36
NG_008690.1:g.45163T>A
NG_008690.2:g.85971T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.441+22T>A MANE Select	ENSP00000448059.1:n.441+22T>A
ENST00000307000.7:c.426+22T>A	ENSP00000303500.2:n.426+22T>A
ENST00000549111.5:n.537+22T>A
ENST00000550978.6:c.447T>A
ENST00000551988.5:n.530+22T>A
ENST00000553106.5:c.441+22T>A	ENSP00000448059.1:n.441+22T>A
NM_000277.1:c.441+22T>A	NP_000268.1:n.441+22T>A
XM_011538422.1:c.441+22T>A	XP_011536724.1:n.441+22T>A
NM_000277.2:c.441+22T>A	NP_000268.1:n.441+22T>A
NM_001354304.1:c.441+22T>A	NP_001341233.1:n.441+22T>A
XM_017019370.2:c.441+22T>A	XP_016874859.1:n.441+22T>A
NM_000277.3:c.441+22T>A MANE Select	NP_000268.1:n.441+22T>A
NM_001354304.2:c.441+22T>A	NP_001341233.1:n.441+22T>A