Canonical Allele Identifier: CA338691208

Gene: UBIAD1

Linked Data

• COSMIC: COSM368394
• MyVariant Identifiers: chr1:g.11333887T>C (hg19) ; chr1:g.11273830T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11273830T>C , CM000663.2:g.11273830T>C	GRCh38
NC_000001.10:g.11333887T>C , CM000663.1:g.11333887T>C	GRCh37
NC_000001.9:g.11256474T>C	NCBI36
NG_009443.1:g.5633T>C
NG_009443.2:g.5633T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.299T>C MANE Select	ENSP00000366006.5:p.Leu100Ser
ENST00000376804.2:c.299T>C	ENSP00000366000.1:p.Leu100Ser
ENST00000376810.5:c.299T>C	ENSP00000366006.5:p.Leu100Ser
NM_013319.2:c.299T>C	NP_037451.1:p.Leu100Ser
XM_006710590.2:c.299T>C	XP_006710653.1:p.Leu100Ser
XM_011541304.1:c.299T>C	XP_011539606.1:p.Leu100Ser
XR_946616.1:n.633T>C
NM_001330349.1:c.299T>C	NP_001317278.1:p.Leu100Ser
NM_001330350.1:c.299T>C	NP_001317279.1:p.Leu100Ser
XR_946616.3:n.633T>C
NM_001330349.2:c.299T>C	NP_001317278.1:p.Leu100Ser
NM_001330350.2:c.299T>C	NP_001317279.1:p.Leu100Ser
NM_013319.3:c.299T>C MANE Select	NP_037451.1:p.Leu100Ser