Canonical Allele Identifier: CA1419024

Gene: TMEM63A

Linked Data

• dbSNP Id: rs752443273
• ExAC: 1:226040517 A / G
• gnomAD v2: 1-226040517-A-G
• gnomAD v3: 1-225852816-A-G
• gnomAD v4: 1-225852816-A-G
• MyVariant Identifiers: chr1:g.226040517A>G (hg19) ; chr1:g.225852816A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225852816A>G , CM000663.2:g.225852816A>G	GRCh38
NC_000001.10:g.226040517A>G , CM000663.1:g.226040517A>G	GRCh37
NC_000001.9:g.224107140A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366835.8:c.1798-47T>C MANE Select	ENSP00000355800.3:n.1798-47T>C
ENST00000366835.7:c.1798-47T>C	ENSP00000355800.3:n.1798-47T>C
NM_014698.2:c.1798-47T>C	NP_055513.2:n.1798-47T>C
XM_006711841.2:c.1267-47T>C	XP_006711904.1:n.1267-47T>C
XM_011544328.1:c.1798-47T>C	XP_011542630.1:n.1798-47T>C
XM_011544329.1:c.1798-47T>C	XP_011542631.1:n.1798-47T>C
XM_011544330.1:c.1798-47T>C	XP_011542632.1:n.1798-47T>C
XM_011544331.1:c.1711-47T>C	XP_011542633.1:n.1711-47T>C
XM_011544332.1:c.1357-47T>C	XP_011542634.1:n.1357-47T>C
XR_949163.1:n.2103-47T>C
XM_006711841.4:c.1267-47T>C	XP_006711904.1:n.1267-47T>C
XM_011544328.3:c.1798-47T>C	XP_011542630.1:n.1798-47T>C
XM_011544329.3:c.1798-47T>C	XP_011542631.1:n.1798-47T>C
XM_011544330.3:c.1798-47T>C	XP_011542632.1:n.1798-47T>C
XM_011544331.3:c.1711-47T>C	XP_011542633.1:n.1711-47T>C
XM_011544332.3:c.1357-47T>C	XP_011542634.1:n.1357-47T>C
XR_001737552.2:n.1885-47T>C
XR_949163.3:n.2082-47T>C
NM_014698.3:c.1798-47T>C MANE Select	NP_055513.2:n.1798-47T>C