Canonical Allele Identifier: CA16020764

Gene: PAH

Linked Data

• ClinVar Variation Id: 1453858
• ClinVar RCV Id: RCV001941587
• dbSNP Id: rs2136701578
• gnomAD v4: 12-102894779-C-T
• MyVariant Identifiers: chr12:g.103288557C>T (hg19) ; chr12:g.102894779C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894779C>T , CM000674.2:g.102894779C>T	GRCh38
NC_000012.11:g.103288557C>T , CM000674.1:g.103288557C>T	GRCh37
NC_000012.10:g.101812687C>T	NCBI36
NG_008690.1:g.27824G>A
NG_008690.2:g.68632G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.308G>A MANE Select	ENSP00000448059.1:p.Gly103Asp
ENST00000307000.7:c.293G>A	ENSP00000303500.2:p.Gly98Asp
ENST00000546844.1:c.308G>A	ENSP00000446658.1:p.Gly103Asp
ENST00000548928.1:n.230G>A
ENST00000549111.5:n.404G>A
ENST00000550978.6:c.292G>A
ENST00000551337.5:c.308G>A	ENSP00000447620.1:p.Gly103Asp
ENST00000551988.5:n.397G>A
ENST00000553106.5:c.308G>A	ENSP00000448059.1:p.Gly103Asp
NM_000277.1:c.308G>A	NP_000268.1:p.Gly103Asp
XM_011538422.1:c.308G>A	XP_011536724.1:p.Gly103Asp
NM_000277.2:c.308G>A	NP_000268.1:p.Gly103Asp
NM_001354304.1:c.308G>A	NP_001341233.1:p.Gly103Asp
XM_017019370.2:c.308G>A	XP_016874859.1:p.Gly103Asp
NM_000277.3:c.308G>A MANE Select	NP_000268.1:p.Gly103Asp
NM_001354304.2:c.308G>A	NP_001341233.1:p.Gly103Asp