Canonical Allele Identifier: CA229488

Gene: PAH

Linked Data

• ClinVar Variation Id: 102631
• ClinVar RCV Id: RCV000088874 ; RCV002259586
• dbSNP Id: rs63048261
• MyVariant Identifiers: chr12:g.103288657A>G (hg19) ; chr12:g.102894879A>G (hg38)
• ERepo: CA229488/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894879A>G , CM000674.2:g.102894879A>G	GRCh38
NC_000012.11:g.103288657A>G , CM000674.1:g.103288657A>G	GRCh37
NC_000012.10:g.101812787A>G	NCBI36
NG_008690.1:g.27724T>C
NG_008690.2:g.68532T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.208T>C MANE Select	ENSP00000448059.1:p.Ser70Pro
ENST00000307000.7:c.193T>C	ENSP00000303500.2:p.Ser65Pro
ENST00000546844.1:c.208T>C	ENSP00000446658.1:p.Ser70Pro
ENST00000548677.2:n.295T>C
ENST00000548928.1:n.130T>C
ENST00000549111.5:n.304T>C
ENST00000550978.6:c.192T>C
ENST00000551337.5:c.208T>C	ENSP00000447620.1:p.Ser70Pro
ENST00000551988.5:n.297T>C
ENST00000553106.5:c.208T>C	ENSP00000448059.1:p.Ser70Pro
ENST00000635500.1:n.176T>C
NM_000277.1:c.208T>C	NP_000268.1:p.Ser70Pro
XM_011538422.1:c.208T>C	XP_011536724.1:p.Ser70Pro
NM_000277.2:c.208T>C	NP_000268.1:p.Ser70Pro
NM_001354304.1:c.208T>C	NP_001341233.1:p.Ser70Pro
XM_017019370.2:c.208T>C	XP_016874859.1:p.Ser70Pro
NM_000277.3:c.208T>C MANE Select	NP_000268.1:p.Ser70Pro
NM_001354304.2:c.208T>C	NP_001341233.1:p.Ser70Pro