Canonical Allele Identifier: CA1224646662

Gene: TMEM63A

Linked Data

• dbSNP Id: rs1576072757
• gnomAD v4: 1-225852784-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225852784T>G , CM000663.2:g.225852784T>G	GRCh38
NC_000001.10:g.226040485T>G , CM000663.1:g.226040485T>G	GRCh37
NC_000001.9:g.224107108T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366835.8:c.1798-15A>C MANE Select	ENSP00000355800.3:n.1798-15A>C
ENST00000366835.7:c.1798-15A>C	ENSP00000355800.3:n.1798-15A>C
NM_014698.2:c.1798-15A>C	NP_055513.2:n.1798-15A>C
XM_006711841.2:c.1267-15A>C	XP_006711904.1:n.1267-15A>C
XM_011544328.1:c.1798-15A>C	XP_011542630.1:n.1798-15A>C
XM_011544329.1:c.1798-15A>C	XP_011542631.1:n.1798-15A>C
XM_011544330.1:c.1798-15A>C	XP_011542632.1:n.1798-15A>C
XM_011544331.1:c.1711-15A>C	XP_011542633.1:n.1711-15A>C
XM_011544332.1:c.1357-15A>C	XP_011542634.1:n.1357-15A>C
XR_949163.1:n.2103-15A>C
XM_006711841.4:c.1267-15A>C	XP_006711904.1:n.1267-15A>C
XM_011544328.3:c.1798-15A>C	XP_011542630.1:n.1798-15A>C
XM_011544329.3:c.1798-15A>C	XP_011542631.1:n.1798-15A>C
XM_011544330.3:c.1798-15A>C	XP_011542632.1:n.1798-15A>C
XM_011544331.3:c.1711-15A>C	XP_011542633.1:n.1711-15A>C
XM_011544332.3:c.1357-15A>C	XP_011542634.1:n.1357-15A>C
XR_001737552.2:n.1885-15A>C
XR_949163.3:n.2082-15A>C
NM_014698.3:c.1798-15A>C MANE Select	NP_055513.2:n.1798-15A>C