Canonical Allele Identifier: CA338691667

Gene: UBIAD1

Linked Data

• MyVariant Identifiers: chr1:g.11334100C>A (hg19) ; chr1:g.11274043C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11274043C>A , CM000663.2:g.11274043C>A	GRCh38
NC_000001.10:g.11334100C>A , CM000663.1:g.11334100C>A	GRCh37
NC_000001.9:g.11256687C>A	NCBI36
NG_009443.1:g.5846C>A
NG_009443.2:g.5846C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376810.6:c.512C>A MANE Select	ENSP00000366006.5:p.Ser171Tyr
ENST00000376804.2:c.512C>A	ENSP00000366000.1:p.Ser171Tyr
ENST00000376810.5:c.512C>A	ENSP00000366006.5:p.Ser171Tyr
ENST00000483738.1:c.110C>A	ENSP00000473453.1:p.Ser37Tyr
ENST00000486588.6:c.155C>A	ENSP00000473612.1:p.Ser52Tyr
NM_013319.2:c.512C>A	NP_037451.1:p.Ser171Tyr
XM_006710590.2:c.512C>A	XP_006710653.1:p.Ser171Tyr
XM_011541304.1:c.512C>A	XP_011539606.1:p.Ser171Tyr
XR_946616.1:n.846C>A
NM_001330349.1:c.512C>A	NP_001317278.1:p.Ser171Tyr
NM_001330350.1:c.512C>A	NP_001317279.1:p.Ser171Tyr
XR_946616.3:n.846C>A
NM_001330349.2:c.512C>A	NP_001317278.1:p.Ser171Tyr
NM_001330350.2:c.512C>A	NP_001317279.1:p.Ser171Tyr
NM_013319.3:c.512C>A MANE Select	NP_037451.1:p.Ser171Tyr