Canonical Allele Identifier: CA12226974

Gene: MBOAT1

Linked Data

• dbSNP Id: rs1202199
• gnomAD v2: 6-20156174-T-C
• gnomAD v3: 6-20155943-T-C
• gnomAD v4: 6-20155943-T-C
• MyVariant Identifiers: chr6:g.20156174T>C (hg19) ; chr6:g.20155943T>C (hg38)

Genomic Alleles

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

Transcript Alleles

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