Canonical Allele Identifier: CA229897

Gene: PAH

Linked Data

• ClinVar Variation Id: 102927
• ClinVar RCV Id: RCV000089194
• dbSNP Id: rs62508589
• MyVariant Identifiers: chr12:g.103238184C>T (hg19) ; chr12:g.102844406C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844406C>T , CM000674.2:g.102844406C>T	GRCh38
NC_000012.11:g.103238184C>T , CM000674.1:g.103238184C>T	GRCh37
NC_000012.10:g.101762314C>T	NCBI36
NG_008690.1:g.78197G>A
NG_008690.2:g.119005G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.995G>A MANE Select	ENSP00000448059.1:p.Gly332Glu
ENST00000307000.7:c.980G>A	ENSP00000303500.2:p.Gly327Glu
ENST00000549247.6:n.754G>A
ENST00000551114.2:n.657G>A
ENST00000553106.5:c.995G>A	ENSP00000448059.1:p.Gly332Glu
ENST00000635477.1:c.99G>A
ENST00000635528.1:n.510G>A
NM_000277.1:c.995G>A	NP_000268.1:p.Gly332Glu
XM_011538422.1:c.938G>A	XP_011536724.1:p.Gly313Glu
NM_000277.2:c.995G>A	NP_000268.1:p.Gly332Glu
NM_001354304.1:c.995G>A	NP_001341233.1:p.Gly332Glu
NM_000277.3:c.995G>A MANE Select	NP_000268.1:p.Gly332Glu
NM_001354304.2:c.995G>A	NP_001341233.1:p.Gly332Glu