Canonical Allele Identifier: CA368192793
Gene: SAMD9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2559033
ClinVar RCV Id: RCV003304927
MyVariant Identifiers: chr7:g.92733270A>G (hg19) chr7:g.93103957A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93103957A>G , CM000669.2:g.93103957A>G GRCh38
NC_000007.13:g.92733270A>G , CM000669.1:g.92733270A>G GRCh37
NC_000007.12:g.92571206A>G NCBI36
NG_023419.1:g.19067T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379958.3:c.2141T>C MANE Select ENSP00000369292.2:p.Leu714Pro
ENST00000379958.2:c.2141T>C ENSP00000369292.2:p.Leu714Pro
ENST00000446617.1:c.2141T>C ENSP00000414529.1:p.Leu714Pro
ENST00000620985.4:c.2141T>C ENSP00000484636.1:p.Leu714Pro
NM_001193307.1:c.2141T>C NP_001180236.1:p.Leu714Pro
NM_017654.3:c.2141T>C NP_060124.2:p.Leu714Pro
NM_017654.4:c.2141T>C MANE Select NP_060124.2:p.Leu714Pro
NM_001193307.2:c.2141T>C NP_001180236.1:p.Leu714Pro
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