Canonical Allele Identifier: CA382626534
Gene: PTS HGNC NCBI

Linked Data

gnomAD v4: 11-112226511-G-A
MyVariant Identifiers: chr11:g.112097234G>A (hg19) chr11:g.112226511G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112226511G>A , CM000673.2:g.112226511G>A GRCh38
NC_000011.9:g.112097234G>A , CM000673.1:g.112097234G>A GRCh37
NC_000011.8:g.111602444G>A NCBI36
NG_008743.1:g.5147G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000280362.8:c.68G>A MANE Select ENSP00000280362.3:p.Ser23Asn
ENST00000280362.7:c.68G>A ENSP00000280362.3:p.Ser23Asn
ENST00000525645.1:n.143G>A
ENST00000525803.1:c.68G>A ENSP00000431750.1:p.Ser23Asn
ENST00000528679.5:c.68G>A ENSP00000435895.1:p.Ser23Asn
ENST00000531673.5:c.68G>A ENSP00000433469.1:p.Ser23Asn
NM_000317.2:c.68G>A NP_000308.1:p.Ser23Asn
NM_000317.3:c.68G>A MANE Select NP_000308.1:p.Ser23Asn
Search 100 bp 5'
Search 100 bp 3'