Canonical Allele Identifier: CA368177694
Gene: SAMD9 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.92730844C>G (hg19) chr7:g.93101531C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93101531C>G , CM000669.2:g.93101531C>G GRCh38
NC_000007.13:g.92730844C>G , CM000669.1:g.92730844C>G GRCh37
NC_000007.12:g.92568780C>G NCBI36
NG_023419.1:g.21493G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379958.3:c.4567G>C MANE Select ENSP00000369292.2:p.Val1523Leu
ENST00000379958.2:c.4567G>C ENSP00000369292.2:p.Val1523Leu
ENST00000620985.4:c.4567G>C ENSP00000484636.1:p.Val1523Leu
NM_001193307.1:c.4567G>C NP_001180236.1:p.Val1523Leu
NM_017654.3:c.4567G>C NP_060124.2:p.Val1523Leu
NM_017654.4:c.4567G>C MANE Select NP_060124.2:p.Val1523Leu
NM_001193307.2:c.4567G>C NP_001180236.1:p.Val1523Leu
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