Canonical Allele Identifier: CA139634472
Gene: HMGCLL1 HGNC NCBI

Linked Data

dbSNP Id: rs576828811
gnomAD v2: 6-55473305-G-A
gnomAD v3: 6-55608507-G-A
gnomAD v4: 6-55608507-G-A
MyVariant Identifiers: chr6:g.55473305G>A (hg19) chr6:g.55608507G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.55608507G>A , CM000668.2:g.55608507G>A GRCh38
NC_000006.11:g.55473305G>A , CM000668.1:g.55473305G>A GRCh37
NC_000006.10:g.55581264G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XM_011514701.1:c.-279-66367C>T XP_011513003.1:n.-279-66367C>T
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