Canonical Allele Identifier: CA1418977

Gene: TMEM63A

Linked Data

• dbSNP Id: rs749663821
• ExAC: 1:226040321 TCCATGTAC / T
• gnomAD v2: 1-226040321-TCCATGTAC-T
• gnomAD v3: 1-225852620-TCCATGTAC-T
• gnomAD v4: 1-225852620-TCCATGTAC-T
• MyVariant Identifiers: chr1:g.226040322_226040329del (hg19) ; chr1:g.225852621_225852628del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225852631_225852638del , CM000663.2:g.225852631_225852638del	GRCh38
NC_000001.10:g.226040332_226040339del , CM000663.1:g.226040332_226040339del	GRCh37
NC_000001.9:g.224106955_224106962del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000366835.8:c.1903+36_1903+43del MANE Select	ENSP00000355800.3:n.1903+36_1903+43del
ENST00000366835.7:c.1903+36_1903+43del	ENSP00000355800.3:n.1903+36_1903+43del
NM_014698.2:c.1903+36_1903+43del	NP_055513.2:n.1903+36_1903+43del
XM_006711841.2:c.1372+36_1372+43del	XP_006711904.1:n.1372+36_1372+43del
XM_011544328.1:c.1903+36_1903+43del	XP_011542630.1:n.1903+36_1903+43del
XM_011544329.1:c.1903+36_1903+43del	XP_011542631.1:n.1903+36_1903+43del
XM_011544330.1:c.1903+36_1903+43del	XP_011542632.1:n.1903+36_1903+43del
XM_011544331.1:c.1816+36_1816+43del	XP_011542633.1:n.1816+36_1816+43del
XM_011544332.1:c.1462+36_1462+43del	XP_011542634.1:n.1462+36_1462+43del
XR_949163.1:n.2208+36_2208+43del
XM_006711841.4:c.1372+36_1372+43del	XP_006711904.1:n.1372+36_1372+43del
XM_011544328.3:c.1903+36_1903+43del	XP_011542630.1:n.1903+36_1903+43del
XM_011544329.3:c.1903+36_1903+43del	XP_011542631.1:n.1903+36_1903+43del
XM_011544330.3:c.1903+36_1903+43del	XP_011542632.1:n.1903+36_1903+43del
XM_011544331.3:c.1816+36_1816+43del	XP_011542633.1:n.1816+36_1816+43del
XM_011544332.3:c.1462+36_1462+43del	XP_011542634.1:n.1462+36_1462+43del
XR_001737552.2:n.1990+36_1990+43del
XR_949163.3:n.2187+36_2187+43del
NM_014698.3:c.1903+36_1903+43del MANE Select	NP_055513.2:n.1903+36_1903+43del