Canonical Allele Identifier: CA340322806

Gene: KTI12 TXNDC12

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.52033265G>A , CM000663.2:g.52033265G>A	GRCh38
NC_000001.10:g.52498937G>A , CM000663.1:g.52498937G>A	GRCh37
NC_000001.9:g.52271525G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_015913.4:c.159-4635C>T (TXNDC12) MANE Select	NP_056997.1:n.159-4635C>T
NM_138417.3:c.497C>T (KTI12) MANE Select	NP_612426.1:p.Ala166Val
ENST00000371614.2:c.497C>T (KTI12) MANE Select	ENSP00000360676.1:p.Ala166Val
ENST00000371626.9:c.159-4635C>T (TXNDC12) MANE Select	ENSP00000360688.4:n.159-4635C>T
NM_015913.3:c.159-4635C>T (TXNDC12)	NP_056997.1:n.159-4635C>T
NM_138417.2:c.497C>T (KTI12)	NP_612426.1:p.Ala166Val
NR_046405.1:n.2020C>T (TXNDC12)
NR_046406.1:n.1897C>T (TXNDC12)
ENST00000371614.1:c.497C>T (KTI12)	ENSP00000360676.1:p.Ala166Val
ENST00000371626.8:c.159-4635C>T (TXNDC12)	ENSP00000360688.4:n.159-4635C>T
ENST00000472624.5:c.159-2717C>T (TXNDC12)	ENSP00000477120.1:n.159-2717C>T
ENST00000648686.1:c.86C>T	ENSP00000498140.1:p.Ala29Val