Canonical Allele Identifier: CA368192808
Gene: SAMD9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93103959T>A , CM000669.2:g.93103959T>A GRCh38
NC_000007.13:g.92733272T>A , CM000669.1:g.92733272T>A GRCh37
NC_000007.12:g.92571208T>A NCBI36
NG_023419.1:g.19065A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379958.3:c.2139A>T MANE Select ENSP00000369292.2:p.Arg713Ser
ENST00000379958.2:c.2139A>T ENSP00000369292.2:p.Arg713Ser
ENST00000446617.1:c.2139A>T ENSP00000414529.1:p.Arg713Ser
ENST00000620985.4:c.2139A>T ENSP00000484636.1:p.Arg713Ser
NM_001193307.1:c.2139A>T NP_001180236.1:p.Arg713Ser
NM_017654.3:c.2139A>T NP_060124.2:p.Arg713Ser
NM_017654.4:c.2139A>T MANE Select NP_060124.2:p.Arg713Ser
NM_001193307.2:c.2139A>T NP_001180236.1:p.Arg713Ser