Canonical Allele Identifier: CA368193288

Gene: SAMD9

Linked Data

• MyVariant Identifiers: chr7:g.92733325A>G (hg19) ; chr7:g.93104012A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93104012A>G , CM000669.2:g.93104012A>G	GRCh38
NC_000007.13:g.92733325A>G , CM000669.1:g.92733325A>G	GRCh37
NC_000007.12:g.92571261A>G	NCBI36
NG_023419.1:g.19012T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379958.3:c.2086T>C MANE Select	ENSP00000369292.2:p.Phe696Leu
ENST00000379958.2:c.2086T>C	ENSP00000369292.2:p.Phe696Leu
ENST00000446617.1:c.2086T>C	ENSP00000414529.1:p.Phe696Leu
ENST00000620985.4:c.2086T>C	ENSP00000484636.1:p.Phe696Leu
NM_001193307.1:c.2086T>C	NP_001180236.1:p.Phe696Leu
NM_017654.3:c.2086T>C	NP_060124.2:p.Phe696Leu
NM_017654.4:c.2086T>C MANE Select	NP_060124.2:p.Phe696Leu
NM_001193307.2:c.2086T>C	NP_001180236.1:p.Phe696Leu