Canonical Allele Identifier: CA386291684

Gene: PAH

Linked Data

• ClinVar Variation Id: 446506
• ClinVar RCV Id: RCV000515773
• dbSNP Id: rs763115697
• MyVariant Identifiers: chr12:g.103240708C>A (hg19) ; chr12:g.102846930C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102846930C>A , CM000674.2:g.102846930C>A	GRCh38
NC_000012.11:g.103240708C>A , CM000674.1:g.103240708C>A	GRCh37
NC_000012.10:g.101764838C>A	NCBI36
NG_008690.1:g.75673G>T
NG_008690.2:g.116481G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.934G>T MANE Select	ENSP00000448059.1:p.Gly312Cys
ENST00000307000.7:c.919G>T	ENSP00000303500.2:p.Gly307Cys
ENST00000549247.6:n.693G>T
ENST00000551114.2:n.596G>T
ENST00000553106.5:c.934G>T	ENSP00000448059.1:p.Gly312Cys
ENST00000635477.1:c.74-2499G>T
ENST00000635528.1:n.449G>T
NM_000277.1:c.934G>T	NP_000268.1:p.Gly312Cys
XM_011538422.1:c.913-2499G>T	XP_011536724.1:n.913-2499G>T
NM_000277.2:c.934G>T	NP_000268.1:p.Gly312Cys
NM_001354304.1:c.934G>T	NP_001341233.1:p.Gly312Cys
NM_000277.3:c.934G>T MANE Select	NP_000268.1:p.Gly312Cys
NM_001354304.2:c.934G>T	NP_001341233.1:p.Gly312Cys