Canonical Allele Identifier: CA368176532

Gene: SAMD9

Linked Data

• MyVariant Identifiers: chr7:g.92730739A>C (hg19) ; chr7:g.93101426A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93101426A>C , CM000669.2:g.93101426A>C	GRCh38
NC_000007.13:g.92730739A>C , CM000669.1:g.92730739A>C	GRCh37
NC_000007.12:g.92568675A>C	NCBI36
NG_023419.1:g.21598T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379958.3:c.4672T>G MANE Select	ENSP00000369292.2:p.Leu1558Val
ENST00000379958.2:c.4672T>G	ENSP00000369292.2:p.Leu1558Val
ENST00000620985.4:c.4672T>G	ENSP00000484636.1:p.Leu1558Val
NM_001193307.1:c.4672T>G	NP_001180236.1:p.Leu1558Val
NM_017654.3:c.4672T>G	NP_060124.2:p.Leu1558Val
NM_017654.4:c.4672T>G MANE Select	NP_060124.2:p.Leu1558Val
NM_001193307.2:c.4672T>G	NP_001180236.1:p.Leu1558Val