Canonical Allele Identifier: CA1224646634

Gene: TMEM63A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225852716_225852718delinsGAC , CM000663.2:g.225852716_225852718delinsGAC	GRCh38
NC_000001.10:g.226040417_226040419delinsGAC , CM000663.1:g.226040417_226040419delinsGAC	GRCh37
NC_000001.9:g.224107040_224107042delinsGAC	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000366835.8:c.1849_1851delinsGTC MANE Select	ENSP00000355800.3:p.Val617=
ENST00000366835.7:c.1849_1851delinsGTC	ENSP00000355800.3:p.Val617=
NM_014698.2:c.1849_1851delinsGTC	NP_055513.2:p.Val617=
XM_006711841.2:c.1318_1320delinsGTC	XP_006711904.1:p.Val440=
XM_011544328.1:c.1849_1851delinsGTC	XP_011542630.1:p.Val617=
XM_011544329.1:c.1849_1851delinsGTC	XP_011542631.1:p.Val617=
XM_011544330.1:c.1849_1851delinsGTC	XP_011542632.1:p.Val617=
XM_011544331.1:c.1762_1764delinsGTC	XP_011542633.1:p.Val588=
XM_011544332.1:c.1408_1410delinsGTC	XP_011542634.1:p.Val470=
XR_949163.1:n.2154_2156delinsGTC
XM_006711841.4:c.1318_1320delinsGTC	XP_006711904.1:p.Val440=
XM_011544328.3:c.1849_1851delinsGTC	XP_011542630.1:p.Val617=
XM_011544329.3:c.1849_1851delinsGTC	XP_011542631.1:p.Val617=
XM_011544330.3:c.1849_1851delinsGTC	XP_011542632.1:p.Val617=
XM_011544331.3:c.1762_1764delinsGTC	XP_011542633.1:p.Val588=
XM_011544332.3:c.1408_1410delinsGTC	XP_011542634.1:p.Val470=
XR_001737552.2:n.1936_1938delinsGTC
XR_949163.3:n.2133_2135delinsGTC
NM_014698.3:c.1849_1851delinsGTC MANE Select	NP_055513.2:p.Val617=