Canonical Allele Identifier: CA368192698

Gene: SAMD9

Linked Data

• MyVariant Identifiers: chr7:g.92733262T>A (hg19) ; chr7:g.93103949T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93103949T>A , CM000669.2:g.93103949T>A	GRCh38
NC_000007.13:g.92733262T>A , CM000669.1:g.92733262T>A	GRCh37
NC_000007.12:g.92571198T>A	NCBI36
NG_023419.1:g.19075A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379958.3:c.2149A>T MANE Select	ENSP00000369292.2:p.Met717Leu
ENST00000379958.2:c.2149A>T	ENSP00000369292.2:p.Met717Leu
ENST00000446617.1:c.2149A>T	ENSP00000414529.1:p.Met717Leu
ENST00000620985.4:c.2149A>T	ENSP00000484636.1:p.Met717Leu
NM_001193307.1:c.2149A>T	NP_001180236.1:p.Met717Leu
NM_017654.3:c.2149A>T	NP_060124.2:p.Met717Leu
NM_017654.4:c.2149A>T MANE Select	NP_060124.2:p.Met717Leu
NM_001193307.2:c.2149A>T	NP_001180236.1:p.Met717Leu