Canonical Allele Identifier: CA368193178
Gene: SAMD9 HGNC NCBI

Linked Data

dbSNP Id: rs1230308617
gnomAD v2: 7-92733312-C-G
gnomAD v3: 7-93103999-C-G
gnomAD v4: 7-93103999-C-G
MyVariant Identifiers: chr7:g.92733312C>G (hg19) chr7:g.93103999C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93103999C>G , CM000669.2:g.93103999C>G GRCh38
NC_000007.13:g.92733312C>G , CM000669.1:g.92733312C>G GRCh37
NC_000007.12:g.92571248C>G NCBI36
NG_023419.1:g.19025G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379958.3:c.2099G>C MANE Select ENSP00000369292.2:p.Ser700Thr
ENST00000379958.2:c.2099G>C ENSP00000369292.2:p.Ser700Thr
ENST00000446617.1:c.2099G>C ENSP00000414529.1:p.Ser700Thr
ENST00000620985.4:c.2099G>C ENSP00000484636.1:p.Ser700Thr
NM_001193307.1:c.2099G>C NP_001180236.1:p.Ser700Thr
NM_017654.3:c.2099G>C NP_060124.2:p.Ser700Thr
NM_017654.4:c.2099G>C MANE Select NP_060124.2:p.Ser700Thr
NM_001193307.2:c.2099G>C NP_001180236.1:p.Ser700Thr
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