Canonical Allele Identifier: CA571284350

Gene: SAMD5

Linked Data

• gnomAD v2: 6-148117363-T-G
• MyVariant Identifiers: chr6:g.148117363T>G (hg19) ; chr6:g.147796227T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.147796227T>G , CM000668.2:g.147796227T>G	GRCh38
NC_000006.11:g.148117363T>G , CM000668.1:g.148117363T>G	GRCh37
NC_000006.10:g.148159056T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_017010850.1:c.460-151245T>G	XP_016866339.1:n.460-151245T>G