Canonical Allele Identifier: CA2620508959

Gene: PAH

Linked Data

• gnomAD v4: 12-102844570-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844570G>C , CM000674.2:g.102844570G>C	GRCh38
NC_000012.11:g.103238348G>C , CM000674.1:g.103238348G>C	GRCh37
NC_000012.10:g.101762478G>C	NCBI36
NG_008690.1:g.78033C>G
NG_008690.2:g.118841C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.970-139C>G MANE Select	ENSP00000448059.1:n.970-139C>G
ENST00000307000.7:c.955-139C>G	ENSP00000303500.2:n.955-139C>G
ENST00000549247.6:n.729-139C>G
ENST00000551114.2:n.632-139C>G
ENST00000553106.5:c.970-139C>G	ENSP00000448059.1:n.970-139C>G
ENST00000635477.1:c.74-139C>G
ENST00000635528.1:n.485-139C>G
NM_000277.1:c.970-139C>G	NP_000268.1:n.970-139C>G
XM_011538422.1:c.913-139C>G	XP_011536724.1:n.913-139C>G
NM_000277.2:c.970-139C>G	NP_000268.1:n.970-139C>G
NM_001354304.1:c.970-139C>G	NP_001341233.1:n.970-139C>G
NM_000277.3:c.970-139C>G MANE Select	NP_000268.1:n.970-139C>G
NM_001354304.2:c.970-139C>G	NP_001341233.1:n.970-139C>G