Canonical Allele Identifier: CA12261288
Gene: SSR1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.7278096C>T
GRCh37 chr6:g.7278329C>T
gnomAD v2:
6:7278329 C / T
gnomAD v3:
6:7278096 C / T
gnomAD v4:
chr6-7278096-C-T
Joint Max Group AF 0.33217411 (SAS)
Genomes Max Group AF 0.33217411 (SAS)
dbSNP:
2764085
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7278096C>T , CM000668.2:g.7278096C>T GRCh38
NC_000006.11:g.7278329C>T , CM000668.1:g.7278329C>T GRCh37
NC_000006.10:g.7223328C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000650389.1:c.*52-8942G>A ENSP00000497016.1:n.*52-8942G>A
ENST00000474597.5:c.873-8942G>A ENSP00000418617.1:n.873-8942G>A
ENST00000475213.1:n.230-8942G>A
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