Canonical Allele Identifier: CA382626511

Gene: PTS

Linked Data

• dbSNP Id: rs1424327731
• gnomAD v2: 11-112097227-A-T
• gnomAD v4: 11-112226504-A-T
• MyVariant Identifiers: chr11:g.112097227A>T (hg19) ; chr11:g.112226504A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112226504A>T , CM000673.2:g.112226504A>T	GRCh38
NC_000011.9:g.112097227A>T , CM000673.1:g.112097227A>T	GRCh37
NC_000011.8:g.111602437A>T	NCBI36
NG_008743.1:g.5140A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000280362.8:c.61A>T MANE Select	ENSP00000280362.3:p.Ser21Cys
ENST00000280362.7:c.61A>T	ENSP00000280362.3:p.Ser21Cys
ENST00000525645.1:n.136A>T
ENST00000525803.1:c.61A>T	ENSP00000431750.1:p.Ser21Cys
ENST00000528679.5:c.61A>T	ENSP00000435895.1:p.Ser21Cys
ENST00000531673.5:c.61A>T	ENSP00000433469.1:p.Ser21Cys
NM_000317.2:c.61A>T	NP_000308.1:p.Ser21Cys
NM_000317.3:c.61A>T MANE Select	NP_000308.1:p.Ser21Cys