Canonical Allele Identifier: CA368193568

Gene: SAMD9

Linked Data

• MyVariant Identifiers: chr7:g.92733371C>A (hg19) ; chr7:g.93104058C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93104058C>A , CM000669.2:g.93104058C>A	GRCh38
NC_000007.13:g.92733371C>A , CM000669.1:g.92733371C>A	GRCh37
NC_000007.12:g.92571307C>A	NCBI36
NG_023419.1:g.18966G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379958.3:c.2040G>T MANE Select	ENSP00000369292.2:p.Glu680Asp
ENST00000379958.2:c.2040G>T	ENSP00000369292.2:p.Glu680Asp
ENST00000446617.1:c.2040G>T	ENSP00000414529.1:p.Glu680Asp
ENST00000620985.4:c.2040G>T	ENSP00000484636.1:p.Glu680Asp
NM_001193307.1:c.2040G>T	NP_001180236.1:p.Glu680Asp
NM_017654.3:c.2040G>T	NP_060124.2:p.Glu680Asp
NM_017654.4:c.2040G>T MANE Select	NP_060124.2:p.Glu680Asp
NM_001193307.2:c.2040G>T	NP_001180236.1:p.Glu680Asp