Canonical Allele Identifier: CA601756946
Gene: PTS HGNC NCBI

Linked Data

dbSNP Id: rs1436375932
gnomAD v2: 11-112097131-A-C
gnomAD v3: 11-112226408-A-C
gnomAD v4: 11-112226408-A-C
MyVariant Identifiers: chr11:g.112097131A>C (hg19) chr11:g.112226408A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112226408A>C , CM000673.2:g.112226408A>C GRCh38
NC_000011.9:g.112097131A>C , CM000673.1:g.112097131A>C GRCh37
NC_000011.8:g.111602341A>C NCBI36
NG_008743.1:g.5044A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000280362.7:c.-36A>C ENSP00000280362.3:n.-36A>C
ENST00000525645.1:n.40A>C
ENST00000528679.5:c.-36A>C ENSP00000435895.1:n.-36A>C
ENST00000531673.5:c.-36A>C ENSP00000433469.1:n.-36A>C
NM_000317.2:c.-36A>C NP_000308.1:n.-36A>C
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