Canonical Allele Identifier: CA820492086

Gene: SAMD5

Linked Data

• dbSNP Id: rs1268792413
• gnomAD v2: 6-148117105-C-A
• MyVariant Identifiers: chr6:g.148117105C>A (hg19) ; chr6:g.147795969C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.147795969C>A , CM000668.2:g.147795969C>A	GRCh38
NC_000006.11:g.148117105C>A , CM000668.1:g.148117105C>A	GRCh37
NC_000006.10:g.148158798C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_017010850.1:c.460-151503C>A	XP_016866339.1:n.460-151503C>A