Canonical Allele Identifier: CA382626522

Gene: PTS

Linked Data

• gnomAD v4: 11-112226507-G-T
• MyVariant Identifiers: chr11:g.112097230G>T (hg19) ; chr11:g.112226507G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112226507G>T , CM000673.2:g.112226507G>T	GRCh38
NC_000011.9:g.112097230G>T , CM000673.1:g.112097230G>T	GRCh37
NC_000011.8:g.111602440G>T	NCBI36
NG_008743.1:g.5143G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.64G>T MANE Select	ENSP00000280362.3:p.Ala22Ser
ENST00000280362.7:c.64G>T	ENSP00000280362.3:p.Ala22Ser
ENST00000525645.1:n.139G>T
ENST00000525803.1:c.64G>T	ENSP00000431750.1:p.Ala22Ser
ENST00000528679.5:c.64G>T	ENSP00000435895.1:p.Ala22Ser
ENST00000531673.5:c.64G>T	ENSP00000433469.1:p.Ala22Ser
NM_000317.2:c.64G>T	NP_000308.1:p.Ala22Ser
NM_000317.3:c.64G>T MANE Select	NP_000308.1:p.Ala22Ser