Canonical Allele Identifier: CA591144
Gene: UBIAD1 HGNC NCBI

Linked Data

dbSNP Id: rs762840240
gnomAD v2: 1-11334018-G-C
gnomAD v3: 1-11273961-G-C
gnomAD v4: 1-11273961-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11273961G>C , CM000663.2:g.11273961G>C GRCh38
NC_000001.10:g.11334018G>C , CM000663.1:g.11334018G>C GRCh37
NC_000001.9:g.11256605G>C NCBI36
NG_009443.1:g.5764G>C
NG_009443.2:g.5764G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376810.6:c.430G>C MANE Select ENSP00000366006.5:p.Val144Leu
ENST00000376804.2:c.430G>C ENSP00000366000.1:p.Val144Leu
ENST00000376810.5:c.430G>C ENSP00000366006.5:p.Val144Leu
ENST00000483738.1:c.28G>C ENSP00000473453.1:p.Val10Leu
ENST00000486588.6:c.73G>C ENSP00000473612.1:p.Val25Leu
NM_013319.2:c.430G>C NP_037451.1:p.Val144Leu
XM_006710590.2:c.430G>C XP_006710653.1:p.Val144Leu
XM_011541304.1:c.430G>C XP_011539606.1:p.Val144Leu
XR_946616.1:n.764G>C
NM_001330349.1:c.430G>C NP_001317278.1:p.Val144Leu
NM_001330350.1:c.430G>C NP_001317279.1:p.Val144Leu
XR_946616.3:n.764G>C
NM_001330349.2:c.430G>C NP_001317278.1:p.Val144Leu
NM_001330350.2:c.430G>C NP_001317279.1:p.Val144Leu
NM_013319.3:c.430G>C MANE Select NP_037451.1:p.Val144Leu