Canonical Allele Identifier: CA1419023

Gene: TMEM63A

Linked Data

• dbSNP Id: rs767660680
• ExAC: 1:226040514 TC / T
• gnomAD v2: 1-226040514-TC-T
• gnomAD v4: 1-225852813-TC-T
• MyVariant Identifiers: chr1:g.226040515del (hg19) ; chr1:g.225852814del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225852814del , CM000663.2:g.225852814del	GRCh38
NC_000001.10:g.226040515del , CM000663.1:g.226040515del	GRCh37
NC_000001.9:g.224107138del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366835.8:c.1798-45del MANE Select	ENSP00000355800.3:n.1798-45del
ENST00000366835.7:c.1798-45del	ENSP00000355800.3:n.1798-45del
NM_014698.2:c.1798-45del	NP_055513.2:n.1798-45del
XM_006711841.2:c.1267-45del	XP_006711904.1:n.1267-45del
XM_011544328.1:c.1798-45del	XP_011542630.1:n.1798-45del
XM_011544329.1:c.1798-45del	XP_011542631.1:n.1798-45del
XM_011544330.1:c.1798-45del	XP_011542632.1:n.1798-45del
XM_011544331.1:c.1711-45del	XP_011542633.1:n.1711-45del
XM_011544332.1:c.1357-45del	XP_011542634.1:n.1357-45del
XR_949163.1:n.2103-45del
XM_006711841.4:c.1267-45del	XP_006711904.1:n.1267-45del
XM_011544328.3:c.1798-45del	XP_011542630.1:n.1798-45del
XM_011544329.3:c.1798-45del	XP_011542631.1:n.1798-45del
XM_011544330.3:c.1798-45del	XP_011542632.1:n.1798-45del
XM_011544331.3:c.1711-45del	XP_011542633.1:n.1711-45del
XM_011544332.3:c.1357-45del	XP_011542634.1:n.1357-45del
XR_001737552.2:n.1885-45del
XR_949163.3:n.2082-45del
NM_014698.3:c.1798-45del MANE Select	NP_055513.2:n.1798-45del