Canonical Allele Identifier: CA286504

Gene: PAH

Linked Data

• ClinVar Variation Id: 102677
• ClinVar RCV Id: RCV000088925 ; RCV000801016 ; RCV002222393
• dbSNP Id: rs62514909
• ExAC: 12:103260446 G / C
• gnomAD v2: 12-103260446-G-C
• gnomAD v3: 12-102866668-G-C
• gnomAD v4: 12-102866668-G-C
• MyVariant Identifiers: chr12:g.103260446G>C (hg19) ; chr12:g.102866668G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102866668G>C , CM000674.2:g.102866668G>C	GRCh38
NC_000012.11:g.103260446G>C , CM000674.1:g.103260446G>C	GRCh37
NC_000012.10:g.101784576G>C	NCBI36
NG_008690.1:g.55935C>G
NG_008690.2:g.96743C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.442-5C>G MANE Select	ENSP00000448059.1:n.442-5C>G
ENST00000307000.7:c.427-5C>G	ENSP00000303500.2:n.427-5C>G
ENST00000549111.5:n.538-5C>G
ENST00000551988.5:n.530+10794C>G
ENST00000553106.5:c.442-5C>G	ENSP00000448059.1:n.442-5C>G
NM_000277.1:c.442-5C>G	NP_000268.1:n.442-5C>G
XM_011538422.1:c.442-5C>G	XP_011536724.1:n.442-5C>G
NM_000277.2:c.442-5C>G	NP_000268.1:n.442-5C>G
NM_001354304.1:c.442-5C>G	NP_001341233.1:n.442-5C>G
XM_017019370.2:c.442-5C>G	XP_016874859.1:n.442-5C>G
NM_000277.3:c.442-5C>G MANE Select	NP_000268.1:n.442-5C>G
NM_001354304.2:c.442-5C>G	NP_001341233.1:n.442-5C>G