Canonical Allele Identifier: CA2620506848

Gene: PAH

Linked Data

• gnomAD v4: 12-102877297-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102877297A>G , CM000674.2:g.102877297A>G	GRCh38
NC_000012.11:g.103271075A>G , CM000674.1:g.103271075A>G	GRCh37
NC_000012.10:g.101795205A>G	NCBI36
NG_008690.1:g.45306T>C
NG_008690.2:g.86114T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.441+165T>C MANE Select	ENSP00000448059.1:n.441+165T>C
ENST00000307000.7:c.426+165T>C	ENSP00000303500.2:n.426+165T>C
ENST00000549111.5:n.537+165T>C
ENST00000550978.6:c.590T>C
ENST00000551988.5:n.530+165T>C
ENST00000553106.5:c.441+165T>C	ENSP00000448059.1:n.441+165T>C
NM_000277.1:c.441+165T>C	NP_000268.1:n.441+165T>C
XM_011538422.1:c.441+165T>C	XP_011536724.1:n.441+165T>C
NM_000277.2:c.441+165T>C	NP_000268.1:n.441+165T>C
NM_001354304.1:c.441+165T>C	NP_001341233.1:n.441+165T>C
XM_017019370.2:c.441+165T>C	XP_016874859.1:n.441+165T>C
NM_000277.3:c.441+165T>C MANE Select	NP_000268.1:n.441+165T>C
NM_001354304.2:c.441+165T>C	NP_001341233.1:n.441+165T>C