Canonical Allele Identifier: CA4342546

Gene: SAMD9

Linked Data

• dbSNP Id: rs768989016
• ExAC: 7:92730935 A / G
• gnomAD v2: 7-92730935-A-G
• gnomAD v4: 7-93101622-A-G
• MyVariant Identifiers: chr7:g.92730935A>G (hg19) ; chr7:g.93101622A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93101622A>G , CM000669.2:g.93101622A>G	GRCh38
NC_000007.13:g.92730935A>G , CM000669.1:g.92730935A>G	GRCh37
NC_000007.12:g.92568871A>G	NCBI36
NG_023419.1:g.21402T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000379958.3:c.4476T>C MANE Select	ENSP00000369292.2:p.Leu1492=
ENST00000379958.2:c.4476T>C	ENSP00000369292.2:p.Leu1492=
ENST00000620985.4:c.4476T>C	ENSP00000484636.1:p.Leu1492=
NM_001193307.1:c.4476T>C	NP_001180236.1:p.Leu1492=
NM_017654.3:c.4476T>C	NP_060124.2:p.Leu1492=
NM_017654.4:c.4476T>C MANE Select	NP_060124.2:p.Leu1492=
NM_001193307.2:c.4476T>C	NP_001180236.1:p.Leu1492=