Canonical Allele Identifier: CA386303855

Gene: PAH

Linked Data

• gnomAD v4: 12-102917102-C-G
• MyVariant Identifiers: chr12:g.103310880C>G (hg19) ; chr12:g.102917102C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917102C>G , CM000674.2:g.102917102C>G	GRCh38
NC_000012.11:g.103310880C>G , CM000674.1:g.103310880C>G	GRCh37
NC_000012.10:g.101835010C>G	NCBI36
NG_008690.1:g.5501G>C
NG_008690.2:g.46309G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.29G>C MANE Select	ENSP00000448059.1:p.Gly10Ala
ENST00000307000.7:c.-119G>C	ENSP00000303500.2:n.-119G>C
ENST00000546844.1:c.29G>C	ENSP00000446658.1:p.Gly10Ala
ENST00000547319.1:n.340G>C
ENST00000549111.5:n.125G>C
ENST00000550978.6:c.13G>C
ENST00000551337.5:c.29G>C	ENSP00000447620.1:p.Gly10Ala
ENST00000551988.5:n.118G>C
ENST00000553106.5:c.29G>C	ENSP00000448059.1:p.Gly10Ala
ENST00000635500.1:n.29-4204G>C
NM_000277.1:c.29G>C	NP_000268.1:p.Gly10Ala
XM_011538422.1:c.29G>C	XP_011536724.1:p.Gly10Ala
NM_000277.2:c.29G>C	NP_000268.1:p.Gly10Ala
NM_001354304.1:c.29G>C	NP_001341233.1:p.Gly10Ala
XM_017019370.2:c.29G>C	XP_016874859.1:p.Gly10Ala
NM_000277.3:c.29G>C MANE Select	NP_000268.1:p.Gly10Ala
NM_001354304.2:c.29G>C	NP_001341233.1:p.Gly10Ala