Canonical Allele Identifier: CA571284269

Gene: SAMD5

Linked Data

• dbSNP Id: rs1490154294
• gnomAD v2: 6-148116813-C-CA
• gnomAD v3: 6-147795677-C-CA
• gnomAD v4: 6-147795677-C-CA
• MyVariant Identifiers: chr6:g.148116813_148116814insA (hg19) ; chr6:g.147795677_147795678insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.147795678dup , CM000668.2:g.147795678dup	GRCh38
NC_000006.11:g.148116814dup , CM000668.1:g.148116814dup	GRCh37
NC_000006.10:g.148158507dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_017010850.1:c.460-151794dup	XP_016866339.1:n.460-151794dup