Canonical Allele Identifier: CA338690994
Gene: UBIAD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11273724G>T , CM000663.2:g.11273724G>T GRCh38
NC_000001.10:g.11333781G>T , CM000663.1:g.11333781G>T GRCh37
NC_000001.9:g.11256368G>T NCBI36
NG_009443.1:g.5527G>T
NG_009443.2:g.5527G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376810.6:c.193G>T MANE Select ENSP00000366006.5:p.Val65Leu
ENST00000376804.2:c.193G>T ENSP00000366000.1:p.Val65Leu
ENST00000376810.5:c.193G>T ENSP00000366006.5:p.Val65Leu
NM_013319.2:c.193G>T NP_037451.1:p.Val65Leu
XM_006710590.2:c.193G>T XP_006710653.1:p.Val65Leu
XM_011541304.1:c.193G>T XP_011539606.1:p.Val65Leu
XR_946616.1:n.527G>T
NM_001330349.1:c.193G>T NP_001317278.1:p.Val65Leu
NM_001330350.1:c.193G>T NP_001317279.1:p.Val65Leu
XR_946616.3:n.527G>T
NM_001330349.2:c.193G>T NP_001317278.1:p.Val65Leu
NM_001330350.2:c.193G>T NP_001317279.1:p.Val65Leu
NM_013319.3:c.193G>T MANE Select NP_037451.1:p.Val65Leu