Canonical Allele Identifier: CA345012543

Gene: TMEM63A

Linked Data

• MyVariant Identifiers: chr1:g.226040406A>C (hg19) ; chr1:g.225852705A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225852705A>C , CM000663.2:g.225852705A>C	GRCh38
NC_000001.10:g.226040406A>C , CM000663.1:g.226040406A>C	GRCh37
NC_000001.9:g.224107029A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000366835.8:c.1862T>G MANE Select	ENSP00000355800.3:p.Ile621Ser
ENST00000366835.7:c.1862T>G	ENSP00000355800.3:p.Ile621Ser
NM_014698.2:c.1862T>G	NP_055513.2:p.Ile621Ser
XM_006711841.2:c.1331T>G	XP_006711904.1:p.Ile444Ser
XM_011544328.1:c.1862T>G	XP_011542630.1:p.Ile621Ser
XM_011544329.1:c.1862T>G	XP_011542631.1:p.Ile621Ser
XM_011544330.1:c.1862T>G	XP_011542632.1:p.Ile621Ser
XM_011544331.1:c.1775T>G	XP_011542633.1:p.Ile592Ser
XM_011544332.1:c.1421T>G	XP_011542634.1:p.Ile474Ser
XR_949163.1:n.2167T>G
XM_006711841.4:c.1331T>G	XP_006711904.1:p.Ile444Ser
XM_011544328.3:c.1862T>G	XP_011542630.1:p.Ile621Ser
XM_011544329.3:c.1862T>G	XP_011542631.1:p.Ile621Ser
XM_011544330.3:c.1862T>G	XP_011542632.1:p.Ile621Ser
XM_011544331.3:c.1775T>G	XP_011542633.1:p.Ile592Ser
XM_011544332.3:c.1421T>G	XP_011542634.1:p.Ile474Ser
XR_001737552.2:n.1949T>G
XR_949163.3:n.2146T>G
NM_014698.3:c.1862T>G MANE Select	NP_055513.2:p.Ile621Ser