Canonical Allele Identifier: CA6749064

Gene: PAH

Linked Data

• dbSNP Id: rs761094025
• ExAC: 12:103310885 G / A
• gnomAD v2: 12-103310885-G-A
• MyVariant Identifiers: chr12:g.103310885G>A (hg19) ; chr12:g.102917107G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917107G>A , CM000674.2:g.102917107G>A	GRCh38
NC_000012.11:g.103310885G>A , CM000674.1:g.103310885G>A	GRCh37
NC_000012.10:g.101835015G>A	NCBI36
NG_008690.1:g.5496C>T
NG_008690.2:g.46304C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.24C>T MANE Select	ENSP00000448059.1:p.Asn8=
ENST00000307000.7:c.-124C>T	ENSP00000303500.2:n.-124C>T
ENST00000546844.1:c.24C>T	ENSP00000446658.1:p.Asn8=
ENST00000547319.1:n.335C>T
ENST00000549111.5:n.120C>T
ENST00000550978.6:c.8C>T
ENST00000551337.5:c.24C>T	ENSP00000447620.1:p.Asn8=
ENST00000551988.5:n.113C>T
ENST00000553106.5:c.24C>T	ENSP00000448059.1:p.Asn8=
ENST00000635500.1:n.29-4209C>T
NM_000277.1:c.24C>T	NP_000268.1:p.Asn8=
XM_011538422.1:c.24C>T	XP_011536724.1:p.Asn8=
NM_000277.2:c.24C>T	NP_000268.1:p.Asn8=
NM_001354304.1:c.24C>T	NP_001341233.1:p.Asn8=
XM_017019370.2:c.24C>T	XP_016874859.1:p.Asn8=
NM_000277.3:c.24C>T MANE Select	NP_000268.1:p.Asn8=
NM_001354304.2:c.24C>T	NP_001341233.1:p.Asn8=