Canonical Allele Identifier: CA368192376
Gene: SAMD9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93103915G>A , CM000669.2:g.93103915G>A GRCh38
NC_000007.13:g.92733228G>A , CM000669.1:g.92733228G>A GRCh37
NC_000007.12:g.92571164G>A NCBI36
NG_023419.1:g.19109C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379958.3:c.2183C>T MANE Select ENSP00000369292.2:p.Thr728Ile
ENST00000379958.2:c.2183C>T ENSP00000369292.2:p.Thr728Ile
ENST00000446617.1:c.2183C>T ENSP00000414529.1:p.Thr728Ile
ENST00000620985.4:c.2183C>T ENSP00000484636.1:p.Thr728Ile
NM_001193307.1:c.2183C>T NP_001180236.1:p.Thr728Ile
NM_017654.3:c.2183C>T NP_060124.2:p.Thr728Ile
NM_017654.4:c.2183C>T MANE Select NP_060124.2:p.Thr728Ile
NM_001193307.2:c.2183C>T NP_001180236.1:p.Thr728Ile