Canonical Allele Identifier: CA2059448778

Gene: PAH

Linked Data

• dbSNP Id: rs1874746750

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844536G>A , CM000674.2:g.102844536G>A	GRCh38
NC_000012.11:g.103238314G>A , CM000674.1:g.103238314G>A	GRCh37
NC_000012.10:g.101762444G>A	NCBI36
NG_008690.1:g.78067C>T
NG_008690.2:g.118875C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.970-105C>T MANE Select	ENSP00000448059.1:n.970-105C>T
ENST00000307000.7:c.955-105C>T	ENSP00000303500.2:n.955-105C>T
ENST00000549247.6:n.729-105C>T
ENST00000551114.2:n.632-105C>T
ENST00000553106.5:c.970-105C>T	ENSP00000448059.1:n.970-105C>T
ENST00000635477.1:c.74-105C>T
ENST00000635528.1:n.485-105C>T
NM_000277.1:c.970-105C>T	NP_000268.1:n.970-105C>T
XM_011538422.1:c.913-105C>T	XP_011536724.1:n.913-105C>T
NM_000277.2:c.970-105C>T	NP_000268.1:n.970-105C>T
NM_001354304.1:c.970-105C>T	NP_001341233.1:n.970-105C>T
NM_000277.3:c.970-105C>T MANE Select	NP_000268.1:n.970-105C>T
NM_001354304.2:c.970-105C>T	NP_001341233.1:n.970-105C>T