Canonical Allele Identifier: CA6748984

Gene: PAH

Linked Data

• ClinVar Variation Id: 553638
• ClinVar RCV Id: RCV000669128
• dbSNP Id: rs752792040
• ExAC: 12:103288558 C / A
• gnomAD v3: 12-102894780-C-A
• gnomAD v4: 12-102894780-C-A
• MyVariant Identifiers: chr12:g.103288558C>A (hg19) ; chr12:g.102894780C>A (hg38)
• ERepo: CA6748984/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894780C>A , CM000674.2:g.102894780C>A	GRCh38
NC_000012.11:g.103288558C>A , CM000674.1:g.103288558C>A	GRCh37
NC_000012.10:g.101812688C>A	NCBI36
NG_008690.1:g.27823G>T
NG_008690.2:g.68631G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.307G>T MANE Select	ENSP00000448059.1:p.Gly103Cys
ENST00000307000.7:c.292G>T	ENSP00000303500.2:p.Gly98Cys
ENST00000546844.1:c.307G>T	ENSP00000446658.1:p.Gly103Cys
ENST00000548928.1:n.229G>T
ENST00000549111.5:n.403G>T
ENST00000550978.6:c.291G>T
ENST00000551337.5:c.307G>T	ENSP00000447620.1:p.Gly103Cys
ENST00000551988.5:n.396G>T
ENST00000553106.5:c.307G>T	ENSP00000448059.1:p.Gly103Cys
NM_000277.1:c.307G>T	NP_000268.1:p.Gly103Cys
XM_011538422.1:c.307G>T	XP_011536724.1:p.Gly103Cys
NM_000277.2:c.307G>T	NP_000268.1:p.Gly103Cys
NM_001354304.1:c.307G>T	NP_001341233.1:p.Gly103Cys
XM_017019370.2:c.307G>T	XP_016874859.1:p.Gly103Cys
NM_000277.3:c.307G>T MANE Select	NP_000268.1:p.Gly103Cys
NM_001354304.2:c.307G>T	NP_001341233.1:p.Gly103Cys