Canonical Allele Identifier: CA229589

Gene: PAH

Linked Data

• ClinVar Variation Id: 102707
• ClinVar RCV Id: RCV000088955 ; RCV001057888
• dbSNP Id: rs63102461
• ExAC: 12:103260373 C / T
• gnomAD v2: 12-103260373-C-T
• gnomAD v4: 12-102866595-C-T
• MyVariant Identifiers: chr12:g.103260373C>T (hg19) ; chr12:g.102866595C>T (hg38)
• ERepo: CA229589/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102866595C>T , CM000674.2:g.102866595C>T	GRCh38
NC_000012.11:g.103260373C>T , CM000674.1:g.103260373C>T	GRCh37
NC_000012.10:g.101784503C>T	NCBI36
NG_008690.1:g.56008G>A
NG_008690.2:g.96816G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.509+1G>A MANE Select	ENSP00000448059.1:n.509+1G>A
ENST00000307000.7:c.494+1G>A	ENSP00000303500.2:n.494+1G>A
ENST00000549111.5:n.605+1G>A
ENST00000551988.5:n.530+10867G>A
ENST00000553106.5:c.509+1G>A	ENSP00000448059.1:n.509+1G>A
NM_000277.1:c.509+1G>A	NP_000268.1:n.509+1G>A
XM_011538422.1:c.509+1G>A	XP_011536724.1:n.509+1G>A
NM_000277.2:c.509+1G>A	NP_000268.1:n.509+1G>A
NM_001354304.1:c.509+1G>A	NP_001341233.1:n.509+1G>A
XM_017019370.2:c.509+1G>A	XP_016874859.1:n.509+1G>A
NM_000277.3:c.509+1G>A MANE Select	NP_000268.1:n.509+1G>A
NM_001354304.2:c.509+1G>A	NP_001341233.1:n.509+1G>A