Canonical Allele Identifier: CA11064089

Gene: GEMIN6

Linked Data

• dbSNP Id: rs13024811
• gnomAD v2: 2-38980231-T-C
• gnomAD v3: 2-38753089-T-C
• gnomAD v4: 2-38753089-T-C
• MyVariant Identifiers: chr2:g.38980231T>C (hg19) ; chr2:g.38753089T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38753089T>C , CM000664.2:g.38753089T>C	GRCh38
NC_000002.11:g.38980231T>C , CM000664.1:g.38980231T>C	GRCh37
NC_000002.10:g.38833735T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000409011.5:c.-281+1271T>C	ENSP00000387191.1:n.-281+1271T>C