Canonical Allele Identifier: CA456624814
Gene: SAMD9 HGNC NCBI

Linked Data

dbSNP Id: rs757992368
gnomAD v2: 7-92730746-G-T
gnomAD v4: 7-93101433-G-T
MyVariant Identifiers: chr7:g.92730746G>T (hg19) chr7:g.93101433G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93101433G>T , CM000669.2:g.93101433G>T GRCh38
NC_000007.13:g.92730746G>T , CM000669.1:g.92730746G>T GRCh37
NC_000007.12:g.92568682G>T NCBI36
NG_023419.1:g.21591C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379958.3:c.4665C>A MANE Select ENSP00000369292.2:p.Pro1555=
ENST00000379958.2:c.4665C>A ENSP00000369292.2:p.Pro1555=
ENST00000620985.4:c.4665C>A ENSP00000484636.1:p.Pro1555=
NM_001193307.1:c.4665C>A NP_001180236.1:p.Pro1555=
NM_017654.3:c.4665C>A NP_060124.2:p.Pro1555=
NM_017654.4:c.4665C>A MANE Select NP_060124.2:p.Pro1555=
NM_001193307.2:c.4665C>A NP_001180236.1:p.Pro1555=
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