Canonical Allele Identifier: CA4342884

Gene: SAMD9

Linked Data

• dbSNP Id: rs763200702
• ExAC: 7:92733263 T / C
• gnomAD v2: 7-92733263-T-C
• gnomAD v3: 7-93103950-T-C
• gnomAD v4: 7-93103950-T-C
• MyVariant Identifiers: chr7:g.92733263T>C (hg19) ; chr7:g.93103950T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93103950T>C , CM000669.2:g.93103950T>C	GRCh38
NC_000007.13:g.92733263T>C , CM000669.1:g.92733263T>C	GRCh37
NC_000007.12:g.92571199T>C	NCBI36
NG_023419.1:g.19074A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000379958.3:c.2148A>G MANE Select	ENSP00000369292.2:p.Ala716=
ENST00000379958.2:c.2148A>G	ENSP00000369292.2:p.Ala716=
ENST00000446617.1:c.2148A>G	ENSP00000414529.1:p.Ala716=
ENST00000620985.4:c.2148A>G	ENSP00000484636.1:p.Ala716=
NM_001193307.1:c.2148A>G	NP_001180236.1:p.Ala716=
NM_017654.3:c.2148A>G	NP_060124.2:p.Ala716=
NM_017654.4:c.2148A>G MANE Select	NP_060124.2:p.Ala716=
NM_001193307.2:c.2148A>G	NP_001180236.1:p.Ala716=