Canonical Allele Identifier: CA161989232

Gene: SAMD9

Linked Data

• dbSNP Id: rs1001506863
• MyVariant Identifiers: chr7:g.92730847T>C (hg19) ; chr7:g.93101534T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93101534T>C , CM000669.2:g.93101534T>C	GRCh38
NC_000007.13:g.92730847T>C , CM000669.1:g.92730847T>C	GRCh37
NC_000007.12:g.92568783T>C	NCBI36
NG_023419.1:g.21490A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000379958.3:c.4564A>G MANE Select	ENSP00000369292.2:p.Lys1522Glu
ENST00000379958.2:c.4564A>G	ENSP00000369292.2:p.Lys1522Glu
ENST00000620985.4:c.4564A>G	ENSP00000484636.1:p.Lys1522Glu
NM_001193307.1:c.4564A>G	NP_001180236.1:p.Lys1522Glu
NM_017654.3:c.4564A>G	NP_060124.2:p.Lys1522Glu
NM_017654.4:c.4564A>G MANE Select	NP_060124.2:p.Lys1522Glu
NM_001193307.2:c.4564A>G	NP_001180236.1:p.Lys1522Glu