Canonical Allele Identifier: CA4342532

Gene: SAMD9

Linked Data

• dbSNP Id: rs765833713
• ExAC: 7:92730835 G / A
• gnomAD v2: 7-92730835-G-A
• gnomAD v4: 7-93101522-G-A
• MyVariant Identifiers: chr7:g.92730835G>A (hg19) ; chr7:g.93101522G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93101522G>A , CM000669.2:g.93101522G>A	GRCh38
NC_000007.13:g.92730835G>A , CM000669.1:g.92730835G>A	GRCh37
NC_000007.12:g.92568771G>A	NCBI36
NG_023419.1:g.21502C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000379958.3:c.4576C>T MANE Select	ENSP00000369292.2:p.Leu1526Phe
ENST00000379958.2:c.4576C>T	ENSP00000369292.2:p.Leu1526Phe
ENST00000620985.4:c.4576C>T	ENSP00000484636.1:p.Leu1526Phe
NM_001193307.1:c.4576C>T	NP_001180236.1:p.Leu1526Phe
NM_017654.3:c.4576C>T	NP_060124.2:p.Leu1526Phe
NM_017654.4:c.4576C>T MANE Select	NP_060124.2:p.Leu1526Phe
NM_001193307.2:c.4576C>T	NP_001180236.1:p.Leu1526Phe