Canonical Allele Identifier: CA368177731

Gene: SAMD9

Linked Data

• MyVariant Identifiers: chr7:g.92730849T>G (hg19) ; chr7:g.93101536T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93101536T>G , CM000669.2:g.93101536T>G	GRCh38
NC_000007.13:g.92730849T>G , CM000669.1:g.92730849T>G	GRCh37
NC_000007.12:g.92568785T>G	NCBI36
NG_023419.1:g.21488A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379958.3:c.4562A>C MANE Select	ENSP00000369292.2:p.Glu1521Ala
ENST00000379958.2:c.4562A>C	ENSP00000369292.2:p.Glu1521Ala
ENST00000620985.4:c.4562A>C	ENSP00000484636.1:p.Glu1521Ala
NM_001193307.1:c.4562A>C	NP_001180236.1:p.Glu1521Ala
NM_017654.3:c.4562A>C	NP_060124.2:p.Glu1521Ala
NM_017654.4:c.4562A>C MANE Select	NP_060124.2:p.Glu1521Ala
NM_001193307.2:c.4562A>C	NP_001180236.1:p.Glu1521Ala