Canonical Allele Identifier: CA10524515

Gene: MMGT1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.135967453T>C , CM000685.2:g.135967453T>C	GRCh38
NC_000023.10:g.135049612T>C , CM000685.1:g.135049612T>C	GRCh37
NC_000023.9:g.134877278T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_173470.3:c.173A>G MANE Select	NP_775741.1:p.Tyr58Cys
ENST00000305963.3:c.173A>G MANE Select	ENSP00000306220.2:p.Tyr58Cys
NM_001330000.1:c.173A>G	NP_001316929.1:p.Tyr58Cys
NM_001330000.2:c.173A>G	NP_001316929.1:p.Tyr58Cys
NM_173470.1:c.173A>G	NP_775741.1:p.Tyr58Cys
NM_173470.2:c.173A>G	NP_775741.1:p.Tyr58Cys
ENST00000305963.2:c.173A>G	ENSP00000306220.2:p.Tyr58Cys
ENST00000679621.1:c.173A>G	ENSP00000505226.1:p.Tyr58Cys
ENST00000680510.1:c.120A>G	ENSP00000505521.1:p.Leu40=
ENST00000680510.2:c.120A>G	ENSP00000505521.1:p.Leu40=
ENST00000681201.1:c.133-2270A>G	ENSP00000506673.1:n.133-2270A>G