Canonical Allele Identifier: CA10684401

Gene: MAGI3

Linked Data

• dbSNP Id: rs12144215
• gnomAD v2: 1-114187155-G-T
• gnomAD v3: 1-113644533-G-T
• gnomAD v4: 1-113644533-G-T
• MyVariant Identifiers: chr1:g.114187155G>T (hg19) ; chr1:g.113644533G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113644533G>T , CM000663.2:g.113644533G>T	GRCh38
NC_000001.10:g.114187155G>T , CM000663.1:g.114187155G>T	GRCh37
NC_000001.9:g.113988678G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000307546.14:c.1998+759G>T MANE Select	ENSP00000304604.9:n.1998+759G>T
ENST00000307546.13:c.1998+759G>T	ENSP00000304604.9:n.1998+759G>T
ENST00000369611.4:c.1998+759G>T	ENSP00000358624.4:n.1998+759G>T
ENST00000369615.5:c.1998+759G>T	ENSP00000358628.1:n.1998+759G>T
ENST00000369617.8:c.2073+759G>T	ENSP00000358630.4:n.2073+759G>T
NM_001142782.1:c.1998+759G>T	NP_001136254.1:n.1998+759G>T
NM_152900.2:c.1998+759G>T	NP_690864.2:n.1998+759G>T
XM_005270737.2:c.1998+759G>T	XP_005270794.1:n.1998+759G>T
XM_011541208.1:c.1314+759G>T	XP_011539510.1:n.1314+759G>T
XR_946601.1:n.2558+759G>T
XM_005270737.3:c.1998+759G>T	XP_005270794.1:n.1998+759G>T
XM_011541208.2:c.1314+759G>T	XP_011539510.1:n.1314+759G>T
XM_017000974.1:c.1998+759G>T	XP_016856463.1:n.1998+759G>T
XM_017000975.1:c.825+759G>T	XP_016856464.1:n.825+759G>T
XR_001737106.1:n.2558+759G>T
XR_946601.2:n.2558+759G>T
NM_001142782.2:c.1998+759G>T MANE Select	NP_001136254.1:n.1998+759G>T
NM_152900.3:c.1998+759G>T	NP_690864.2:n.1998+759G>T