Canonical Allele Identifier: CA240739666

Gene: MGAT4C

Linked Data

• dbSNP Id: rs1053412497
• gnomAD v2: 12-87145319-T-A
• MyVariant Identifiers: chr12:g.87145319T>A (hg19) ; chr12:g.86751542T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.86751542T>A , CM000674.2:g.86751542T>A	GRCh38
NC_000012.11:g.87145319T>A , CM000674.1:g.87145319T>A	GRCh37
NC_000012.10:g.85669450T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548651.6:c.-261-24301A>T	ENSP00000447253.1:n.-261-24301A>T
ENST00000621808.5:c.-381-24301A>T	ENSP00000478300.1:n.-381-24301A>T
ENST00000551921.2:n.240-24301A>T
ENST00000621808.4:c.-381-24301A>T	ENSP00000478300.1:n.-381-24301A>T
NM_013244.3:c.-229+87124A>T	NP_037376.2:n.-229+87124A>T
NM_001351285.1:c.-326-24301A>T	NP_001338214.1:n.-326-24301A>T
NM_001351286.1:c.-261-24301A>T	NP_001338215.1:n.-261-24301A>T
NM_013244.4:c.-229+87124A>T	NP_037376.2:n.-229+87124A>T
NM_001351285.2:c.-326-24301A>T	NP_001338214.1:n.-326-24301A>T
NM_001351286.2:c.-261-24301A>T	NP_001338215.1:n.-261-24301A>T
NM_013244.5:c.-229+87124A>T	NP_037376.2:n.-229+87124A>T