Canonical Allele Identifier: CA324877603
Gene: SAMM50 HGNC NCBI

Linked Data

dbSNP Id: rs796757746
gnomAD v2: 22-44394313-C-T
gnomAD v3: 22-43998433-C-T
gnomAD v4: 22-43998433-C-T
MyVariant Identifiers: chr22:g.44394313C>T (hg19) chr22:g.43998433C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43998433C>T , CM000684.2:g.43998433C>T GRCh38
NC_000022.10:g.44394313C>T , CM000684.1:g.44394313C>T GRCh37
NC_000022.9:g.42725646C>T NCBI36
NG_029057.1:g.48053C>T
NG_029743.1:g.4223C>T
NG_029057.2:g.48053C>T
NG_029743.2:g.4223C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000465768.1:n.79+8027C>T
Search 100 bp 5'
Search 100 bp 3'