Canonical Allele Identifier: CA386291680

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103240707C>G (hg19) ; chr12:g.102846929C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102846929C>G , CM000674.2:g.102846929C>G	GRCh38
NC_000012.11:g.103240707C>G , CM000674.1:g.103240707C>G	GRCh37
NC_000012.10:g.101764837C>G	NCBI36
NG_008690.1:g.75674G>C
NG_008690.2:g.116482G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.935G>C MANE Select	ENSP00000448059.1:p.Gly312Ala
ENST00000307000.7:c.920G>C	ENSP00000303500.2:p.Gly307Ala
ENST00000549247.6:n.694G>C
ENST00000551114.2:n.597G>C
ENST00000553106.5:c.935G>C	ENSP00000448059.1:p.Gly312Ala
ENST00000635477.1:c.74-2498G>C
ENST00000635528.1:n.450G>C
NM_000277.1:c.935G>C	NP_000268.1:p.Gly312Ala
XM_011538422.1:c.913-2498G>C	XP_011536724.1:n.913-2498G>C
NM_000277.2:c.935G>C	NP_000268.1:p.Gly312Ala
NM_001354304.1:c.935G>C	NP_001341233.1:p.Gly312Ala
NM_000277.3:c.935G>C MANE Select	NP_000268.1:p.Gly312Ala
NM_001354304.2:c.935G>C	NP_001341233.1:p.Gly312Ala