Canonical Allele Identifier: CA12399300

Gene: TXNDC5 BLOC1S5-TXNDC5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7882840C>T , CM000668.2:g.7882840C>T	GRCh38
NC_000006.11:g.7883073C>T , CM000668.1:g.7883073C>T	GRCh37
NC_000006.10:g.7828072C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_030810.5:c.*304G>A (TXNDC5) MANE Select	NP_110437.2:n.*304G>A
ENST00000379757.9:c.*304G>A (TXNDC5) MANE Select	ENSP00000369081.4:n.*304G>A
NM_001145549.2:c.*304G>A (TXNDC5)	NP_001139021.1:n.*304G>A
NM_001145549.3:c.*304G>A (TXNDC5)	NP_001139021.1:n.*304G>A
NM_001145549.4:c.*304G>A (TXNDC5)	NP_001139021.1:n.*304G>A
NM_030810.3:c.*304G>A (TXNDC5)	NP_110437.2:n.*304G>A
NM_030810.4:c.*304G>A (TXNDC5)	NP_110437.2:n.*304G>A
NR_037616.1:n.1762G>A (BLOC1S5-TXNDC5)
ENST00000379757.8:c.*304G>A (TXNDC5)	ENSP00000369081.4:n.*304G>A
ENST00000439343.2:c.1712G>A (BLOC1S5-TXNDC5)	ENSP00000454697.1:n.1712G>A
ENST00000460138.5:n.1381G>A (TXNDC5)