Canonical Allele Identifier: CA456626281

Gene: SAMD9

Linked Data

• ClinVar Variation Id: 2961095
• ClinVar RCV Id: RCV003819806
• MyVariant Identifiers: chr7:g.92733458A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93104145A>G , CM000669.2:g.93104145A>G	GRCh38
NC_000007.13:g.92733458A>G , CM000669.1:g.92733458A>G	GRCh37
NC_000007.12:g.92571394A>G	NCBI36
NG_023419.1:g.18879T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379958.3:c.1953T>C MANE Select	ENSP00000369292.2:p.Ala651=
ENST00000379958.2:c.1953T>C	ENSP00000369292.2:p.Ala651=
ENST00000446617.1:c.1953T>C	ENSP00000414529.1:p.Ala651=
ENST00000620985.4:c.1953T>C	ENSP00000484636.1:p.Ala651=
NM_001193307.1:c.1953T>C	NP_001180236.1:p.Ala651=
NM_017654.3:c.1953T>C	NP_060124.2:p.Ala651=
NM_017654.4:c.1953T>C MANE Select	NP_060124.2:p.Ala651=
NM_001193307.2:c.1953T>C	NP_001180236.1:p.Ala651=