Canonical Allele Identifier: CA2620525728

Gene: PAH

Linked Data

• gnomAD v4: 12-102854857-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102854857G>T , CM000674.2:g.102854857G>T	GRCh38
NC_000012.11:g.103248635G>T , CM000674.1:g.103248635G>T	GRCh37
NC_000012.10:g.101772765G>T	NCBI36
NG_008690.1:g.67746C>A
NG_008690.2:g.108554C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.706+279C>A MANE Select	ENSP00000448059.1:n.706+279C>A
ENST00000307000.7:c.691+279C>A	ENSP00000303500.2:n.691+279C>A
ENST00000549111.5:n.1081C>A
ENST00000553106.5:c.706+279C>A	ENSP00000448059.1:n.706+279C>A
NM_000277.1:c.706+279C>A	NP_000268.1:n.706+279C>A
XM_011538422.1:c.706+279C>A	XP_011536724.1:n.706+279C>A
NM_000277.2:c.706+279C>A	NP_000268.1:n.706+279C>A
NM_001354304.1:c.706+279C>A	NP_001341233.1:n.706+279C>A
XM_017019370.2:c.707-56C>A	XP_016874859.1:n.707-56C>A
NM_000277.3:c.706+279C>A MANE Select	NP_000268.1:n.706+279C>A
NM_001354304.2:c.706+279C>A	NP_001341233.1:n.706+279C>A