Canonical Allele Identifier: CA345012537

Gene: TMEM63A

Linked Data

• dbSNP Id: rs1009668
• gnomAD v2: 1-226040404-C-A
• gnomAD v4: 1-225852703-C-A
• MyVariant Identifiers: chr1:g.226040404C>A (hg19) ; chr1:g.225852703C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225852703C>A , CM000663.2:g.225852703C>A	GRCh38
NC_000001.10:g.226040404C>A , CM000663.1:g.226040404C>A	GRCh37
NC_000001.9:g.224107027C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000366835.8:c.1864G>T MANE Select	ENSP00000355800.3:p.Val622Leu
ENST00000366835.7:c.1864G>T	ENSP00000355800.3:p.Val622Leu
NM_014698.2:c.1864G>T	NP_055513.2:p.Val622Leu
XM_006711841.2:c.1333G>T	XP_006711904.1:p.Val445Leu
XM_011544328.1:c.1864G>T	XP_011542630.1:p.Val622Leu
XM_011544329.1:c.1864G>T	XP_011542631.1:p.Val622Leu
XM_011544330.1:c.1864G>T	XP_011542632.1:p.Val622Leu
XM_011544331.1:c.1777G>T	XP_011542633.1:p.Val593Leu
XM_011544332.1:c.1423G>T	XP_011542634.1:p.Val475Leu
XR_949163.1:n.2169G>T
XM_006711841.4:c.1333G>T	XP_006711904.1:p.Val445Leu
XM_011544328.3:c.1864G>T	XP_011542630.1:p.Val622Leu
XM_011544329.3:c.1864G>T	XP_011542631.1:p.Val622Leu
XM_011544330.3:c.1864G>T	XP_011542632.1:p.Val622Leu
XM_011544331.3:c.1777G>T	XP_011542633.1:p.Val593Leu
XM_011544332.3:c.1423G>T	XP_011542634.1:p.Val475Leu
XR_001737552.2:n.1951G>T
XR_949163.3:n.2148G>T
NM_014698.3:c.1864G>T MANE Select	NP_055513.2:p.Val622Leu