Canonical Allele Identifier: CA382627515

Gene: PTS

Linked Data

• gnomAD v4: 11-112230211-T-C
• MyVariant Identifiers: chr11:g.112100934T>C (hg19) ; chr11:g.112230211T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112230211T>C , CM000673.2:g.112230211T>C	GRCh38
NC_000011.9:g.112100934T>C , CM000673.1:g.112100934T>C	GRCh37
NC_000011.8:g.111606144T>C	NCBI36
NG_008743.1:g.8847T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.167T>C MANE Select	ENSP00000280362.3:p.Val56Ala
ENST00000280362.7:c.167T>C	ENSP00000280362.3:p.Val56Ala
ENST00000524931.1:c.-38T>C	ENSP00000434688.1:n.-38T>C
ENST00000525803.1:c.163+1538T>C	ENSP00000431750.1:n.163+1538T>C
ENST00000528679.5:c.164-415T>C	ENSP00000435895.1:n.164-415T>C
ENST00000531175.1:n.118T>C
ENST00000531673.5:c.164-415T>C	ENSP00000433469.1:n.164-415T>C
NM_000317.2:c.167T>C	NP_000308.1:p.Val56Ala
XM_011542943.1:c.128T>C	XP_011541245.1:p.Val43Ala
NM_000317.3:c.167T>C MANE Select	NP_000308.1:p.Val56Ala