Canonical Allele Identifier: CA368193117

Gene: SAMD9

Linked Data

• dbSNP Id: rs2116418271
• MyVariant Identifiers: chr7:g.92733306G>C (hg19) ; chr7:g.93103993G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93103993G>C , CM000669.2:g.93103993G>C	GRCh38
NC_000007.13:g.92733306G>C , CM000669.1:g.92733306G>C	GRCh37
NC_000007.12:g.92571242G>C	NCBI36
NG_023419.1:g.19031C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379958.3:c.2105C>G MANE Select	ENSP00000369292.2:p.Ser702Cys
ENST00000379958.2:c.2105C>G	ENSP00000369292.2:p.Ser702Cys
ENST00000446617.1:c.2105C>G	ENSP00000414529.1:p.Ser702Cys
ENST00000620985.4:c.2105C>G	ENSP00000484636.1:p.Ser702Cys
NM_001193307.1:c.2105C>G	NP_001180236.1:p.Ser702Cys
NM_017654.3:c.2105C>G	NP_060124.2:p.Ser702Cys
NM_017654.4:c.2105C>G MANE Select	NP_060124.2:p.Ser702Cys
NM_001193307.2:c.2105C>G	NP_001180236.1:p.Ser702Cys