Canonical Allele Identifier: CA338691910

Gene: UBIAD1

Linked Data

• MyVariant Identifiers: chr1:g.11345790G>C (hg19) ; chr1:g.11285733G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11285733G>C , CM000663.2:g.11285733G>C	GRCh38
NC_000001.10:g.11345790G>C , CM000663.1:g.11345790G>C	GRCh37
NC_000001.9:g.11268377G>C	NCBI36
NG_009443.1:g.17536G>C
NG_009443.2:g.17536G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376810.6:c.619G>C MANE Select	ENSP00000366006.5:p.Val207Leu
ENST00000376804.2:c.530-9140G>C	ENSP00000366000.1:n.530-9140G>C
ENST00000376810.5:c.619G>C	ENSP00000366006.5:p.Val207Leu
ENST00000483738.1:c.216+1G>C	ENSP00000473453.1:n.216+1G>C
ENST00000486588.6:c.261+1G>C	ENSP00000473612.1:n.261+1G>C
NM_013319.2:c.619G>C	NP_037451.1:p.Val207Leu
XM_006710590.2:c.618+1G>C	XP_006710653.1:n.618+1G>C
XM_011541304.1:c.530-9140G>C	XP_011539606.1:n.530-9140G>C
XR_946616.1:n.952+1G>C
NM_001330349.1:c.618+1G>C	NP_001317278.1:n.618+1G>C
NM_001330350.1:c.530-9140G>C	NP_001317279.1:n.530-9140G>C
XR_946616.3:n.952+1G>C
NM_001330349.2:c.618+1G>C	NP_001317278.1:n.618+1G>C
NM_001330350.2:c.530-9140G>C	NP_001317279.1:n.530-9140G>C
NM_013319.3:c.619G>C MANE Select	NP_037451.1:p.Val207Leu