Canonical Allele Identifier: CA338691101
Gene: UBIAD1 HGNC NCBI

Linked Data

gnomAD v4: 1-11273776-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11273776G>T , CM000663.2:g.11273776G>T GRCh38
NC_000001.10:g.11333833G>T , CM000663.1:g.11333833G>T GRCh37
NC_000001.9:g.11256420G>T NCBI36
NG_009443.1:g.5579G>T
NG_009443.2:g.5579G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376810.6:c.245G>T MANE Select ENSP00000366006.5:p.Arg82Met
ENST00000376804.2:c.245G>T ENSP00000366000.1:p.Arg82Met
ENST00000376810.5:c.245G>T ENSP00000366006.5:p.Arg82Met
NM_013319.2:c.245G>T NP_037451.1:p.Arg82Met
XM_006710590.2:c.245G>T XP_006710653.1:p.Arg82Met
XM_011541304.1:c.245G>T XP_011539606.1:p.Arg82Met
XR_946616.1:n.579G>T
NM_001330349.1:c.245G>T NP_001317278.1:p.Arg82Met
NM_001330350.1:c.245G>T NP_001317279.1:p.Arg82Met
XR_946616.3:n.579G>T
NM_001330349.2:c.245G>T NP_001317278.1:p.Arg82Met
NM_001330350.2:c.245G>T NP_001317279.1:p.Arg82Met
NM_013319.3:c.245G>T MANE Select NP_037451.1:p.Arg82Met