Canonical Allele Identifier: CA1419000

Gene: TMEM63A

Linked Data

• ClinVar Variation Id: 2606686
• ClinVar RCV Id: RCV003354901
• dbSNP Id: rs370524375
• ExAC: 1:226040407 T / A
• gnomAD v2: 1-226040407-T-A
• gnomAD v3: 1-225852706-T-A
• gnomAD v4: 1-225852706-T-A
• MyVariant Identifiers: chr1:g.226040407T>A (hg19) ; chr1:g.225852706T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225852706T>A , CM000663.2:g.225852706T>A	GRCh38
NC_000001.10:g.226040407T>A , CM000663.1:g.226040407T>A	GRCh37
NC_000001.9:g.224107030T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000366835.8:c.1861A>T MANE Select	ENSP00000355800.3:p.Ile621Phe
ENST00000366835.7:c.1861A>T	ENSP00000355800.3:p.Ile621Phe
NM_014698.2:c.1861A>T	NP_055513.2:p.Ile621Phe
XM_006711841.2:c.1330A>T	XP_006711904.1:p.Ile444Phe
XM_011544328.1:c.1861A>T	XP_011542630.1:p.Ile621Phe
XM_011544329.1:c.1861A>T	XP_011542631.1:p.Ile621Phe
XM_011544330.1:c.1861A>T	XP_011542632.1:p.Ile621Phe
XM_011544331.1:c.1774A>T	XP_011542633.1:p.Ile592Phe
XM_011544332.1:c.1420A>T	XP_011542634.1:p.Ile474Phe
XR_949163.1:n.2166A>T
XM_006711841.4:c.1330A>T	XP_006711904.1:p.Ile444Phe
XM_011544328.3:c.1861A>T	XP_011542630.1:p.Ile621Phe
XM_011544329.3:c.1861A>T	XP_011542631.1:p.Ile621Phe
XM_011544330.3:c.1861A>T	XP_011542632.1:p.Ile621Phe
XM_011544331.3:c.1774A>T	XP_011542633.1:p.Ile592Phe
XM_011544332.3:c.1420A>T	XP_011542634.1:p.Ile474Phe
XR_001737552.2:n.1948A>T
XR_949163.3:n.2145A>T
NM_014698.3:c.1861A>T MANE Select	NP_055513.2:p.Ile621Phe