Canonical Allele Identifier: CA571284243

Gene: SAMD5

Linked Data

• dbSNP Id: rs1462348471
• gnomAD v2: 6-148116678-T-C
• gnomAD v3: 6-147795542-T-C
• gnomAD v4: 6-147795542-T-C
• MyVariant Identifiers: chr6:g.148116678T>C (hg19) ; chr6:g.147795542T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.147795542T>C , CM000668.2:g.147795542T>C	GRCh38
NC_000006.11:g.148116678T>C , CM000668.1:g.148116678T>C	GRCh37
NC_000006.10:g.148158371T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_017010850.1:c.460-151930T>C	XP_016866339.1:n.460-151930T>C