Canonical Allele Identifier: CA382626908

Gene: PTS

Linked Data

• gnomAD v3: 11-112228594-T-G
• gnomAD v4: 11-112228594-T-G
• MyVariant Identifiers: chr11:g.112099317T>G (hg19) ; chr11:g.112228594T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112228594T>G , CM000673.2:g.112228594T>G	GRCh38
NC_000011.9:g.112099317T>G , CM000673.1:g.112099317T>G	GRCh37
NC_000011.8:g.111604527T>G	NCBI36
NG_008743.1:g.7230T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.84T>G MANE Select	ENSP00000280362.3:p.Ser28Arg
ENST00000280362.7:c.84T>G	ENSP00000280362.3:p.Ser28Arg
ENST00000524931.1:c.-121T>G	ENSP00000434688.1:n.-121T>G
ENST00000525645.1:n.159T>G
ENST00000525803.1:c.84T>G	ENSP00000431750.1:p.Ser28Arg
ENST00000528679.5:c.84T>G	ENSP00000435895.1:p.Ser28Arg
ENST00000531673.5:c.84T>G	ENSP00000433469.1:p.Ser28Arg
NM_000317.2:c.84T>G	NP_000308.1:p.Ser28Arg
NM_000317.3:c.84T>G MANE Select	NP_000308.1:p.Ser28Arg