Canonical Allele Identifier: CA6202895

Gene: THRSP NDUFC2-KCTD14

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78063993C>T , CM000673.2:g.78063993C>T	GRCh38
NC_000011.9:g.77775039C>T , CM000673.1:g.77775039C>T	GRCh37
NC_000011.8:g.77452687C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281030.2:c.112C>T (THRSP) MANE Select	ENSP00000281030.2:p.Arg38Trp
ENST00000528251.1:c.166+15586G>A (NDUFC2-KCTD14)	ENSP00000435967.1:n.166+15586G>A
ENST00000530054.1:c.310+9005G>A (NDUFC2-KCTD14)	ENSP00000432614.1:n.310+9005G>A
ENST00000612612.5:c.310+9005G>A (NDUFC2-KCTD14)	ENSP00000478766.1:n.310+9005G>A
ENST00000614236.2:c.166+15586G>A (NDUFC2-KCTD14)	ENSP00000481472.1:n.166+15586G>A
NM_001203260.1:c.310+9005G>A (NDUFC2-KCTD14)	NP_001190189.1:n.310+9005G>A
NM_001203261.1:c.310+9005G>A (NDUFC2-KCTD14)	NP_001190190.1:n.310+9005G>A
NM_001203262.1:c.166+15586G>A (NDUFC2-KCTD14)	NP_001190191.1:n.166+15586G>A
NM_003251.3:c.112C>T (THRSP)	NP_003242.1:p.Arg38Trp
NM_003251.4:c.112C>T (THRSP) MANE Select	NP_003242.1:p.Arg38Trp
NM_001203260.2:c.310+9005G>A (NDUFC2-KCTD14)	NP_001190189.1:n.310+9005G>A
NM_001203261.2:c.310+9005G>A (NDUFC2-KCTD14)	NP_001190190.1:n.310+9005G>A
NM_001203262.2:c.166+15586G>A (NDUFC2-KCTD14)	NP_001190191.1:n.166+15586G>A