Canonical Allele Identifier: CA149529075

Gene: SAMD5

Linked Data

• dbSNP Id: rs879567721
• gnomAD v2: 6-148116894-C-G
• gnomAD v3: 6-147795758-C-G
• gnomAD v4: 6-147795758-C-G
• MyVariant Identifiers: chr6:g.148116894C>G (hg19) ; chr6:g.147795758C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.147795758C>G , CM000668.2:g.147795758C>G	GRCh38
NC_000006.11:g.148116894C>G , CM000668.1:g.148116894C>G	GRCh37
NC_000006.10:g.148158587C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_017010850.1:c.460-151714C>G	XP_016866339.1:n.460-151714C>G