Canonical Allele Identifier: CA531979335
Gene: GEMIN6 HGNC NCBI

Linked Data

gnomAD v2: 2-38980247-T-A
MyVariant Identifiers: chr2:g.38980247T>A (hg19) chr2:g.38753105T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38753105T>A , CM000664.2:g.38753105T>A GRCh38
NC_000002.11:g.38980247T>A , CM000664.1:g.38980247T>A GRCh37
NC_000002.10:g.38833751T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000409011.5:c.-281+1287T>A ENSP00000387191.1:n.-281+1287T>A
Search 100 bp 5'
Search 100 bp 3'