Canonical Allele Identifier: CA223606016
Gene: SLC3A2 HGNC NCBI

Linked Data

dbSNP Id: rs1053564544
gnomAD v4: 11-62856027-G-C
MyVariant Identifiers: chr11:g.62623499G>C (hg19) chr11:g.62856027G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62856027G>C , CM000673.2:g.62856027G>C GRCh38
NC_000011.9:g.62623499G>C , CM000673.1:g.62623499G>C GRCh37
NC_000011.8:g.62380075G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000680002.1:c.-243G>C ENSP00000506366.1:n.-243G>C
ENST00000680729.1:c.-243G>C ENSP00000505639.1:n.-243G>C
NM_001012662.2:c.-243G>C NP_001012680.1:n.-243G>C
NM_001012664.2:c.-243G>C NP_001012682.1:n.-243G>C
NM_002394.5:c.-243G>C NP_002385.3:n.-243G>C
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