Canonical Allele Identifier: CA403546967
Gene: VMAC HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.5905000T>C
GRCh37 chr19:g.5905011T>C
Revel Score:
ENST00000339485 (MANE Select) 0.210
gnomAD v2:
19:5905011 T / C
gnomAD v3:
19:5905000 T / C
gnomAD v4:
chr19-5905000-T-C
Joint Max Group AF 0.00000731 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000613 (NFE)
ClinVar RCV:
RCV004088702
ClinVar Variation:
2224834
dbSNP:
1208142406
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.5905000T>C , CM000681.2:g.5905000T>C GRCh38
NC_000019.9:g.5905011T>C , CM000681.1:g.5905011T>C GRCh37
NC_000019.8:g.5856011T>C NCBI36
NG_027808.1:g.4014A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000339485.4:c.110T>C MANE Select ENSP00000343348.2:p.Val37Ala
ENST00000339485.3:c.110T>C ENSP00000343348.2:p.Val37Ala
ENST00000588891.1:c.110T>C ENSP00000468419.1:p.Val37Ala
NM_001017921.3:c.110T>C NP_001017921.1:p.Val37Ala
NM_001017921.4:c.110T>C MANE Select NP_001017921.1:p.Val37Ala
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