Canonical Allele Identifier: CA1682905

Gene: MDH1 WDPCP

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.63605370G>A , CM000664.2:g.63605370G>A	GRCh38
NC_000002.11:g.63832504G>A , CM000664.1:g.63832504G>A	GRCh37
NC_000002.10:g.63686008G>A	NCBI36
NG_028144.2:g.240456C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005917.4:c.766G>A (MDH1) MANE Select	NP_005908.1:p.Asp256Asn
ENST00000233114.13:c.766G>A (MDH1) MANE Select	ENSP00000233114.8:p.Asp256Asn
NM_001199111.1:c.820G>A (MDH1)	NP_001186040.1:p.Asp274Asn
NM_001199111.2:c.820G>A (MDH1)	NP_001186040.1:p.Asp274Asn
NM_001199112.1:c.499G>A (MDH1)	NP_001186041.1:p.Asp167Asn
NM_001199112.2:c.499G>A (MDH1)	NP_001186041.1:p.Asp167Asn
NM_001316374.1:c.766G>A (MDH1)	NP_001303303.1:p.Asp256Asn
NM_001316374.2:c.766G>A (MDH1)	NP_001303303.1:p.Asp256Asn
NM_005917.3:c.766G>A (MDH1)	NP_005908.1:p.Asp256Asn
ENST00000233114.12:c.766G>A (MDH1)	ENSP00000233114.8:p.Asp256Asn
ENST00000409476.5:c.394G>A (MDH1)	ENSP00000386719.1:p.Asp132Asn
ENST00000409908.5:c.271G>A (MDH1)	ENSP00000386743.1:p.Asp91Asn
ENST00000421012.2:c.*459G>A (MDH1)	ENSP00000400937.1:n.*459G>A
ENST00000432309.6:c.820G>A (MDH1)	ENSP00000410073.2:p.Asp274Asn
ENST00000467687.1:n.488+45289C>T (WDPCP)
ENST00000490935.5:n.583+45289C>T (WDPCP)
ENST00000539945.5:c.820G>A (MDH1)	ENSP00000438144.1:p.Asp274Asn
ENST00000539945.7:c.766G>A (MDH1)	ENSP00000438144.3:p.Asp256Asn
ENST00000544381.3:c.499G>A (MDH1)	ENSP00000446395.1:p.Asp167Asn
ENST00000544381.4:c.766G>A (MDH1)	ENSP00000446395.2:p.Asp256Asn
XM_011532882.1:c.-25+45289C>T (WDPCP)	XP_011531184.1:n.-25+45289C>T