Canonical Allele Identifier: CA10278596
Gene: SAMM50 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.43976097G>A
GRCh37 chr22:g.44371977G>A
Revel Score:
ENST00000350028 (MANE Select) 0.162
ENST00000396202 0.162
gnomAD v2:
22:44371977 G / A
gnomAD v3:
22:43976097 G / A
gnomAD v4:
chr22-43976097-G-A
Joint Max Group AF 0.00005803 (MID)
Genomes Max Group AF 0.00003249 (AFR)
Exomes Max Group AF 0.00006098 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43976097G>A , CM000684.2:g.43976097G>A GRCh38
NC_000022.10:g.44371977G>A , CM000684.1:g.44371977G>A GRCh37
NC_000022.9:g.42703310G>A NCBI36
NG_029057.1:g.25717G>A
NG_029057.2:g.25717G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000350028.5:c.691G>A MANE Select ENSP00000345445.4:p.Val231Ile
ENST00000350028.4:c.691G>A ENSP00000345445.4:p.Val231Ile
ENST00000474323.5:n.1503G>A
NM_015380.4:c.691G>A NP_056195.3:p.Val231Ile
NM_015380.5:c.691G>A MANE Select NP_056195.3:p.Val231Ile
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