Canonical Allele Identifier: CA382627160

Gene: PTS

Linked Data

• MyVariant Identifiers: chr11:g.112099398T>C (hg19) ; chr11:g.112228675T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112228675T>C , CM000673.2:g.112228675T>C	GRCh38
NC_000011.9:g.112099398T>C , CM000673.1:g.112099398T>C	GRCh37
NC_000011.8:g.111604608T>C	NCBI36
NG_008743.1:g.7311T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000280362.8:c.163+2T>C MANE Select	ENSP00000280362.3:n.163+2T>C
ENST00000280362.7:c.163+2T>C	ENSP00000280362.3:n.163+2T>C
ENST00000524931.1:c.-42+2T>C	ENSP00000434688.1:n.-42+2T>C
ENST00000525645.1:n.240T>C
ENST00000525803.1:c.163+2T>C	ENSP00000431750.1:n.163+2T>C
ENST00000528679.5:c.163+2T>C	ENSP00000435895.1:n.163+2T>C
ENST00000531673.5:c.163+2T>C	ENSP00000433469.1:n.163+2T>C
NM_000317.2:c.163+2T>C	NP_000308.1:n.163+2T>C
NM_000317.3:c.163+2T>C MANE Select	NP_000308.1:n.163+2T>C