Canonical Allele Identifier: CA382627580

Gene: PTS

Linked Data

• MyVariant Identifiers: chr11:g.112100952A>C (hg19) ; chr11:g.112230229A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112230229A>C , CM000673.2:g.112230229A>C	GRCh38
NC_000011.9:g.112100952A>C , CM000673.1:g.112100952A>C	GRCh37
NC_000011.8:g.111606162A>C	NCBI36
NG_008743.1:g.8865A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.185A>C MANE Select	ENSP00000280362.3:p.Glu62Ala
ENST00000280362.7:c.185A>C	ENSP00000280362.3:p.Glu62Ala
ENST00000524931.1:c.-20A>C	ENSP00000434688.1:n.-20A>C
ENST00000525803.1:c.163+1556A>C	ENSP00000431750.1:n.163+1556A>C
ENST00000528679.5:c.164-397A>C	ENSP00000435895.1:n.164-397A>C
ENST00000531175.1:n.136A>C
ENST00000531673.5:c.164-397A>C	ENSP00000433469.1:n.164-397A>C
NM_000317.2:c.185A>C	NP_000308.1:p.Glu62Ala
XM_011542943.1:c.146A>C	XP_011541245.1:p.Glu49Ala
NM_000317.3:c.185A>C MANE Select	NP_000308.1:p.Glu62Ala