Canonical Allele Identifier: CA9375989

Gene: MAG

Linked Data

• ClinVar Variation Id: 1168325
• ClinVar RCV Id: RCV001518483
• dbSNP Id: rs2301600
• ExAC: 19:35786868 C / T
• gnomAD v2: 19-35786868-C-T
• gnomAD v3: 19-35295965-C-T
• gnomAD v4: 19-35295965-C-T
• MyVariant Identifiers: chr19:g.35786868C>T (hg19) ; chr19:g.35295965C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35295965C>T , CM000681.2:g.35295965C>T	GRCh38
NC_000019.9:g.35786868C>T , CM000681.1:g.35786868C>T	GRCh37
NC_000019.8:g.40478708C>T	NCBI36
NG_034078.1:g.8880C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392213.8:c.399C>T MANE Select	ENSP00000376048.2:p.Ser133=
ENST00000361922.8:c.399C>T	ENSP00000355234.4:p.Ser133=
ENST00000392213.7:c.399C>T	ENSP00000376048.2:p.Ser133=
ENST00000537831.2:c.324C>T	ENSP00000440695.1:p.Ser108=
ENST00000595791.5:c.399C>T	ENSP00000473125.1:p.Ser133=
ENST00000597035.5:c.176+223C>T	ENSP00000473245.1:n.176+223C>T
ENST00000600291.5:c.324C>T	ENSP00000470772.1:p.Ser108=
NM_001199216.1:c.324C>T	NP_001186145.1:p.Ser108=
NM_002361.3:c.399C>T	NP_002352.1:p.Ser133=
NM_080600.2:c.399C>T	NP_542167.1:p.Ser133=
NM_002361.4:c.399C>T MANE Select	NP_002352.1:p.Ser133=
NM_001199216.2:c.324C>T	NP_001186145.1:p.Ser108=
NM_080600.3:c.399C>T	NP_542167.1:p.Ser133=