Canonical Allele Identifier: CA229546

Gene: PAH

Linked Data

• ClinVar Variation Id: 102672
• ClinVar RCV Id: RCV000088920 ; RCV000665892
• dbSNP Id: rs62508642
• MyVariant Identifiers: chr12:g.103271237C>G (hg19) ; chr12:g.102877459C>G (hg38)
• ERepo: CA229546/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102877459C>G , CM000674.2:g.102877459C>G	GRCh38
NC_000012.11:g.103271237C>G , CM000674.1:g.103271237C>G	GRCh37
NC_000012.10:g.101795367C>G	NCBI36
NG_008690.1:g.45144G>C
NG_008690.2:g.85952G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.441+3G>C MANE Select	ENSP00000448059.1:n.441+3G>C
ENST00000307000.7:c.426+3G>C	ENSP00000303500.2:n.426+3G>C
ENST00000549111.5:n.537+3G>C
ENST00000550978.6:c.428G>C
ENST00000551988.5:n.530+3G>C
ENST00000553106.5:c.441+3G>C	ENSP00000448059.1:n.441+3G>C
NM_000277.1:c.441+3G>C	NP_000268.1:n.441+3G>C
XM_011538422.1:c.441+3G>C	XP_011536724.1:n.441+3G>C
NM_000277.2:c.441+3G>C	NP_000268.1:n.441+3G>C
NM_001354304.1:c.441+3G>C	NP_001341233.1:n.441+3G>C
XM_017019370.2:c.441+3G>C	XP_016874859.1:n.441+3G>C
NM_000277.3:c.441+3G>C MANE Select	NP_000268.1:n.441+3G>C
NM_001354304.2:c.441+3G>C	NP_001341233.1:n.441+3G>C