Canonical Allele Identifier: CA12368093
Gene: HSPA1L HGNC NCBI
ClinVar RCV:
RCV000856575
ClinVar Variation:
694515
dbSNP:
1008438
gnomAD v2:
6:31783208 A / C
gnomAD v3:
6:31815431 A / C
gnomAD v4:
chr6-31815431-A-C
Joint Max Group AF 0.73601818 (AFR)
Genomes Max Group AF 0.73593029 (AFR)
Exomes Max Group AF 0.72674012 (AFR)
MyVariant.info:
GRCh38 chr6:g.31815431A>C
GRCh37 chr6:g.31783208A>C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31815431A>C , CM000668.2:g.31815431A>C GRCh38
NC_000006.11:g.31783208A>C , CM000668.1:g.31783208A>C GRCh37
NC_000006.10:g.31891187A>C NCBI36
NG_011855.1:g.4628T>G

Transcript Alleles

HGVS Amino-acid Change
XM_005249071.1:c.-14+19T>G XP_005249128.1:n.-14+19T>G
XM_005249073.2:c.-13-3446T>G XP_005249130.1:n.-13-3446T>G
XM_011514566.1:c.-13-3446T>G XP_011512868.1:n.-13-3446T>G
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