Canonical Allele Identifier: CA1418999
Gene: TMEM63A HGNC NCBI
COSMIC:
COSM4986370 (not active)
MyVariant.info:
GRCh38 chr1:g.225852703C>T
GRCh37 chr1:g.226040404C>T
Revel Score:
ENST00000366835 (MANE Select) 0.101
gnomAD v2:
1:226040404 C / T
gnomAD v3:
1:225852703 C / T
gnomAD v4:
chr1-225852703-C-T
Joint Max Group AF 0.23692533 (AMR)
Genomes Max Group AF 0.17532792 (AMR)
Exomes Max Group AF 0.25650941 (AMR)
dbSNP:
1009668
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.225852703C>T , CM000663.2:g.225852703C>T GRCh38
NC_000001.10:g.226040404C>T , CM000663.1:g.226040404C>T GRCh37
NC_000001.9:g.224107027C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366835.8:c.1864G>A MANE Select ENSP00000355800.3:p.Val622Met
ENST00000366835.7:c.1864G>A ENSP00000355800.3:p.Val622Met
NM_014698.2:c.1864G>A NP_055513.2:p.Val622Met
XM_006711841.2:c.1333G>A XP_006711904.1:p.Val445Met
XM_011544328.1:c.1864G>A XP_011542630.1:p.Val622Met
XM_011544329.1:c.1864G>A XP_011542631.1:p.Val622Met
XM_011544330.1:c.1864G>A XP_011542632.1:p.Val622Met
XM_011544331.1:c.1777G>A XP_011542633.1:p.Val593Met
XM_011544332.1:c.1423G>A XP_011542634.1:p.Val475Met
XR_949163.1:n.2169G>A
XM_006711841.4:c.1333G>A XP_006711904.1:p.Val445Met
XM_011544328.3:c.1864G>A XP_011542630.1:p.Val622Met
XM_011544329.3:c.1864G>A XP_011542631.1:p.Val622Met
XM_011544330.3:c.1864G>A XP_011542632.1:p.Val622Met
XM_011544331.3:c.1777G>A XP_011542633.1:p.Val593Met
XM_011544332.3:c.1423G>A XP_011542634.1:p.Val475Met
XR_001737552.2:n.1951G>A
XR_949163.3:n.2148G>A
NM_014698.3:c.1864G>A MANE Select NP_055513.2:p.Val622Met
Search 100 bp 5'
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