Canonical Allele Identifier: CA16000977

Gene: SAMM50

Linked Data

• dbSNP Id: rs2073080
• gnomAD v2: 22-44394402-C-T
• gnomAD v3: 22-43998522-C-T
• gnomAD v4: 22-43998522-C-T
• MyVariant Identifiers: chr22:g.44394402C>T (hg19) ; chr22:g.43998522C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43998522C>T , CM000684.2:g.43998522C>T	GRCh38
NC_000022.10:g.44394402C>T , CM000684.1:g.44394402C>T	GRCh37
NC_000022.9:g.42725735C>T	NCBI36
NG_029057.1:g.48142C>T
NG_029743.1:g.4312C>T
NG_029057.2:g.48142C>T
NG_029743.2:g.4312C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465768.1:n.79+8116C>T