Canonical Allele Identifier: CA12237039

Gene: HMGCLL1

Linked Data

• dbSNP Id: rs11754509
• gnomAD v2: 6-55473294-A-G
• gnomAD v3: 6-55608496-A-G
• gnomAD v4: 6-55608496-A-G
• MyVariant Identifiers: chr6:g.55473294A>G (hg19) ; chr6:g.55608496A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.55608496A>G , CM000668.2:g.55608496A>G	GRCh38
NC_000006.11:g.55473294A>G , CM000668.1:g.55473294A>G	GRCh37
NC_000006.10:g.55581253A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_011514701.1:c.-279-66356T>C	XP_011513003.1:n.-279-66356T>C