Canonical Allele Identifier: CA822896691
Gene: MBOAT1 HGNC NCBI

Linked Data

dbSNP Id: rs1202199
gnomAD v3: 6-20155943-T-A
gnomAD v4: 6-20155943-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.20155943T>A , CM000668.2:g.20155943T>A GRCh38
NC_000006.11:g.20156174T>A , CM000668.1:g.20156174T>A GRCh37
NC_000006.10:g.20264153T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000324607.8:c.100-3174A>T MANE Select ENSP00000324944.7:n.100-3174A>T
ENST00000324607.7:c.100-3174A>T ENSP00000324944.7:n.100-3174A>T
NM_001080480.2:c.100-3174A>T NP_001073949.1:n.100-3174A>T
NR_073465.1:n.330-11628A>T
XM_006714999.1:c.4-3174A>T XP_006715062.1:n.4-3174A>T
XM_006715000.2:c.100-3174A>T XP_006715063.1:n.100-3174A>T
XM_011514313.1:c.100-3174A>T XP_011512615.1:n.100-3174A>T
XR_926070.1:n.268-3174A>T
XR_926071.1:n.268-3174A>T
XM_006714999.2:c.4-3174A>T XP_006715062.1:n.4-3174A>T
XM_006715000.4:c.100-3174A>T XP_006715063.1:n.100-3174A>T
XM_011514313.3:c.100-3174A>T XP_011512615.1:n.100-3174A>T
NM_001080480.3:c.100-3174A>T MANE Select NP_001073949.1:n.100-3174A>T
NR_073465.2:n.335-11628A>T