Canonical Allele Identifier: CA368192418

Gene: SAMD9

Linked Data

• MyVariant Identifiers: chr7:g.92733234T>A (hg19) ; chr7:g.93103921T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93103921T>A , CM000669.2:g.93103921T>A	GRCh38
NC_000007.13:g.92733234T>A , CM000669.1:g.92733234T>A	GRCh37
NC_000007.12:g.92571170T>A	NCBI36
NG_023419.1:g.19103A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379958.3:c.2177A>T MANE Select	ENSP00000369292.2:p.Lys726Ile
ENST00000379958.2:c.2177A>T	ENSP00000369292.2:p.Lys726Ile
ENST00000446617.1:c.2177A>T	ENSP00000414529.1:p.Lys726Ile
ENST00000620985.4:c.2177A>T	ENSP00000484636.1:p.Lys726Ile
NM_001193307.1:c.2177A>T	NP_001180236.1:p.Lys726Ile
NM_017654.3:c.2177A>T	NP_060124.2:p.Lys726Ile
NM_017654.4:c.2177A>T MANE Select	NP_060124.2:p.Lys726Ile
NM_001193307.2:c.2177A>T	NP_001180236.1:p.Lys726Ile