Canonical Allele Identifier: CA114859
Gene: SAMD9 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.93101615T>C
GRCh37 chr7:g.92730928T>C
Revel Score:
ENST00000379958 (MANE Select) 0.184
ClinVar RCV:
RCV000001288
RCV003555884
ClinVar Variation:
1229
dbSNP:
121918554
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93101615T>C , CM000669.2:g.93101615T>C GRCh38
NC_000007.13:g.92730928T>C , CM000669.1:g.92730928T>C GRCh37
NC_000007.12:g.92568864T>C NCBI36
NG_023419.1:g.21409A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379958.3:c.4483A>G MANE Select ENSP00000369292.2:p.Lys1495Glu
ENST00000379958.2:c.4483A>G ENSP00000369292.2:p.Lys1495Glu
ENST00000620985.4:c.4483A>G ENSP00000484636.1:p.Lys1495Glu
NM_001193307.1:c.4483A>G NP_001180236.1:p.Lys1495Glu
NM_017654.3:c.4483A>G NP_060124.2:p.Lys1495Glu
NM_017654.4:c.4483A>G MANE Select NP_060124.2:p.Lys1495Glu
NM_001193307.2:c.4483A>G NP_001180236.1:p.Lys1495Glu
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