Canonical Allele Identifier: CA423507886
Gene: TMEM63A HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.226040369T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.225852668T>G , CM000663.2:g.225852668T>G GRCh38
NC_000001.10:g.226040369T>G , CM000663.1:g.226040369T>G GRCh37
NC_000001.9:g.224106992T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366835.8:c.1899A>C MANE Select ENSP00000355800.3:p.Pro633=
ENST00000366835.7:c.1899A>C ENSP00000355800.3:p.Pro633=
NM_014698.2:c.1899A>C NP_055513.2:p.Pro633=
XM_006711841.2:c.1368A>C XP_006711904.1:p.Pro456=
XM_011544328.1:c.1899A>C XP_011542630.1:p.Pro633=
XM_011544329.1:c.1899A>C XP_011542631.1:p.Pro633=
XM_011544330.1:c.1899A>C XP_011542632.1:p.Pro633=
XM_011544331.1:c.1812A>C XP_011542633.1:p.Pro604=
XM_011544332.1:c.1458A>C XP_011542634.1:p.Pro486=
XR_949163.1:n.2204A>C
XM_006711841.4:c.1368A>C XP_006711904.1:p.Pro456=
XM_011544328.3:c.1899A>C XP_011542630.1:p.Pro633=
XM_011544329.3:c.1899A>C XP_011542631.1:p.Pro633=
XM_011544330.3:c.1899A>C XP_011542632.1:p.Pro633=
XM_011544331.3:c.1812A>C XP_011542633.1:p.Pro604=
XM_011544332.3:c.1458A>C XP_011542634.1:p.Pro486=
XR_001737552.2:n.1986A>C
XR_949163.3:n.2183A>C
NM_014698.3:c.1899A>C MANE Select NP_055513.2:p.Pro633=