Canonical Allele Identifier: CA149529094

Gene: SAMD5

Linked Data

• dbSNP Id: rs9377081
• gnomAD v2: 6-148117160-C-T
• gnomAD v3: 6-147796024-C-T
• gnomAD v4: 6-147796024-C-T
• MyVariant Identifiers: chr6:g.148117160C>T (hg19) ; chr6:g.147796024C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.147796024C>T , CM000668.2:g.147796024C>T	GRCh38
NC_000006.11:g.148117160C>T , CM000668.1:g.148117160C>T	GRCh37
NC_000006.10:g.148158853C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_017010850.1:c.460-151448C>T	XP_016866339.1:n.460-151448C>T