Canonical Allele Identifier: CA368192950

Gene: SAMD9

Linked Data

• dbSNP Id: rs1293592983
• gnomAD v2: 7-92733286-C-T
• gnomAD v4: 7-93103973-C-T
• MyVariant Identifiers: chr7:g.92733286C>T (hg19) ; chr7:g.93103973C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93103973C>T , CM000669.2:g.93103973C>T	GRCh38
NC_000007.13:g.92733286C>T , CM000669.1:g.92733286C>T	GRCh37
NC_000007.12:g.92571222C>T	NCBI36
NG_023419.1:g.19051G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379958.3:c.2125G>A MANE Select	ENSP00000369292.2:p.Asp709Asn
ENST00000379958.2:c.2125G>A	ENSP00000369292.2:p.Asp709Asn
ENST00000446617.1:c.2125G>A	ENSP00000414529.1:p.Asp709Asn
ENST00000620985.4:c.2125G>A	ENSP00000484636.1:p.Asp709Asn
NM_001193307.1:c.2125G>A	NP_001180236.1:p.Asp709Asn
NM_017654.3:c.2125G>A	NP_060124.2:p.Asp709Asn
NM_017654.4:c.2125G>A MANE Select	NP_060124.2:p.Asp709Asn
NM_001193307.2:c.2125G>A	NP_001180236.1:p.Asp709Asn