Canonical Allele Identifier: CA571284320

Gene: SAMD5

Linked Data

• dbSNP Id: rs1298407279
• gnomAD v2: 6-148117144-T-C
• gnomAD v3: 6-147796008-T-C
• gnomAD v4: 6-147796008-T-C
• COSMIC: COSN23899052
• MyVariant Identifiers: chr6:g.148117144T>C (hg19) ; chr6:g.147796008T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.147796008T>C , CM000668.2:g.147796008T>C	GRCh38
NC_000006.11:g.148117144T>C , CM000668.1:g.148117144T>C	GRCh37
NC_000006.10:g.148158837T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_017010850.1:c.460-151464T>C	XP_016866339.1:n.460-151464T>C