Canonical Allele Identifier: CA2608408141

Gene: TRDMT1

Linked Data

• gnomAD v4: 10-17146571-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.17146571A>G , CM000672.2:g.17146571A>G	GRCh38
NC_000010.10:g.17188570A>G , CM000672.1:g.17188570A>G	GRCh37
NC_000010.9:g.17228576A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377799.8:c.*2469T>C MANE Select	ENSP00000367030.3:n.*2469T>C
ENST00000354631.7:c.*3665T>C	ENSP00000346652.3:n.*3665T>C
NM_004412.5:c.*2469T>C	NP_004403.1:n.*2469T>C
XM_005252374.3:c.1075+6936T>C	XP_005252431.1:n.1075+6936T>C
XM_005252375.3:c.*2469T>C	XP_005252432.1:n.*2469T>C
XM_005252376.2:c.*2469T>C	XP_005252433.1:n.*2469T>C
XM_006717388.2:c.*2469T>C	XP_006717451.1:n.*2469T>C
XM_011519343.1:c.*2469T>C	XP_011517645.1:n.*2469T>C
XM_011519344.1:c.*2469T>C	XP_011517646.1:n.*2469T>C
XM_011519345.1:c.*2469T>C	XP_011517647.1:n.*2469T>C
XM_011519346.1:c.*2469T>C	XP_011517648.1:n.*2469T>C
XM_011519347.1:c.*2469T>C	XP_011517649.1:n.*2469T>C
NM_001321006.1:c.*2469T>C	NP_001307935.1:n.*2469T>C
NM_001321007.1:c.*2469T>C	NP_001307936.1:n.*2469T>C
NM_001351219.1:c.*2469T>C	NP_001338148.1:n.*2469T>C
NM_001351221.1:c.*2469T>C	NP_001338150.1:n.*2469T>C
NM_004412.6:c.*2469T>C	NP_004403.1:n.*2469T>C
XM_005252374.5:c.1075+6936T>C	XP_005252431.1:n.1075+6936T>C
XM_005252375.4:c.*2469T>C	XP_005252432.1:n.*2469T>C
XM_011519343.2:c.*2469T>C	XP_011517645.1:n.*2469T>C
XM_011519344.2:c.*2469T>C	XP_011517646.1:n.*2469T>C
XM_011519345.3:c.*2469T>C	XP_011517647.1:n.*2469T>C
XM_017015802.2:c.*2469T>C	XP_016871291.1:n.*2469T>C
XM_017015803.2:c.*2469T>C	XP_016871292.1:n.*2469T>C
XM_017015804.2:c.*2469T>C	XP_016871293.1:n.*2469T>C
XM_017015806.1:c.*2469T>C	XP_016871295.1:n.*2469T>C
XM_017015809.1:c.*2469T>C	XP_016871298.1:n.*2469T>C
XM_017015812.1:c.*2469T>C	XP_016871301.1:n.*2469T>C
XM_024447856.1:c.*2469T>C	XP_024303624.1:n.*2469T>C
XM_024447857.1:c.*2469T>C	XP_024303625.1:n.*2469T>C
XM_024447858.1:c.*2469T>C	XP_024303626.1:n.*2469T>C
NM_004412.7:c.*2469T>C MANE Select	NP_004403.1:n.*2469T>C
NM_001321006.2:c.*2469T>C	NP_001307935.1:n.*2469T>C
NM_001321007.2:c.*2469T>C	NP_001307936.1:n.*2469T>C
NM_001351219.2:c.*2469T>C	NP_001338148.1:n.*2469T>C
NM_001351221.2:c.*2469T>C	NP_001338150.1:n.*2469T>C