Canonical Allele Identifier: CA11915593
Gene: SLC12A7 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.1113129G>T
GRCh37 chr5:g.1113244G>T
gnomAD v2:
5:1113244 G / T
gnomAD v3:
5:1113129 G / T
gnomAD v4:
chr5-1113129-G-T
Joint Max Group AF 0.58908307 (NFE)
Genomes Max Group AF 0.58908307 (NFE)
dbSNP:
4580814
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1113129G>T , CM000667.2:g.1113129G>T GRCh38
NC_000005.9:g.1113244G>T , CM000667.1:g.1113244G>T GRCh37
NC_000005.8:g.1166244G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011513941.1:c.-80-18881C>A XP_011512243.1:n.-80-18881C>A
XR_925680.1:n.489G>T
XR_925682.1:n.137-1491G>T
XM_011513941.2:c.194-18881C>A XP_011512243.2:n.194-18881C>A
XR_925680.2:n.502G>T
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