Canonical Allele Identifier: CA368192217
Gene: SAMD9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93103897T>A , CM000669.2:g.93103897T>A GRCh38
NC_000007.13:g.92733210T>A , CM000669.1:g.92733210T>A GRCh37
NC_000007.12:g.92571146T>A NCBI36
NG_023419.1:g.19127A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379958.3:c.2201A>T MANE Select ENSP00000369292.2:p.His734Leu
ENST00000379958.2:c.2201A>T ENSP00000369292.2:p.His734Leu
ENST00000446617.1:c.2201A>T ENSP00000414529.1:p.His734Leu
ENST00000620985.4:c.2201A>T ENSP00000484636.1:p.His734Leu
NM_001193307.1:c.2201A>T NP_001180236.1:p.His734Leu
NM_017654.3:c.2201A>T NP_060124.2:p.His734Leu
NM_017654.4:c.2201A>T MANE Select NP_060124.2:p.His734Leu
NM_001193307.2:c.2201A>T NP_001180236.1:p.His734Leu