Canonical Allele Identifier: CA386303892

Gene: PAH

Linked Data

• gnomAD v4: 12-102917120-G-T
• MyVariant Identifiers: chr12:g.103310898G>T (hg19) ; chr12:g.102917120G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917120G>T , CM000674.2:g.102917120G>T	GRCh38
NC_000012.11:g.103310898G>T , CM000674.1:g.103310898G>T	GRCh37
NC_000012.10:g.101835028G>T	NCBI36
NG_008690.1:g.5483C>A
NG_008690.2:g.46291C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.11C>A MANE Select	ENSP00000448059.1:p.Ala4Glu
ENST00000307000.7:c.-137C>A	ENSP00000303500.2:n.-137C>A
ENST00000546844.1:c.11C>A	ENSP00000446658.1:p.Ala4Glu
ENST00000547319.1:n.322C>A
ENST00000549111.5:n.107C>A
ENST00000551337.5:c.11C>A	ENSP00000447620.1:p.Ala4Glu
ENST00000551988.5:n.100C>A
ENST00000553106.5:c.11C>A	ENSP00000448059.1:p.Ala4Glu
ENST00000635500.1:n.29-4222C>A
NM_000277.1:c.11C>A	NP_000268.1:p.Ala4Glu
XM_011538422.1:c.11C>A	XP_011536724.1:p.Ala4Glu
NM_000277.2:c.11C>A	NP_000268.1:p.Ala4Glu
NM_001354304.1:c.11C>A	NP_001341233.1:p.Ala4Glu
XM_017019370.2:c.11C>A	XP_016874859.1:p.Ala4Glu
NM_000277.3:c.11C>A MANE Select	NP_000268.1:p.Ala4Glu
NM_001354304.2:c.11C>A	NP_001341233.1:p.Ala4Glu