Canonical Allele Identifier: CA1608776754
Gene: BMP6 HGNC NCBI
TXNDC5 HGNC NCBI
BLOC1S5-TXNDC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7881703G= , CM000668.2:g.7881703G= GRCh38
NC_000006.11:g.7881936G= , CM000668.1:g.7881936G= GRCh37
NC_000006.10:g.7826935G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000283147.7:c.*1360G= (BMP6) MANE Select ENSP00000283147.6:n.*1360G=
ENST00000379757.9:c.*1441C= (TXNDC5) MANE Select ENSP00000369081.4:n.*1441C=
ENST00000379757.8:c.*1441C= (TXNDC5) ENSP00000369081.4:n.*1441C=
ENST00000439343.2:c.2849C= (BLOC1S5-TXNDC5) ENSP00000454697.1:n.2849C=
ENST00000460138.5:n.2518C= (TXNDC5)
NM_001145549.2:c.*1441C= (TXNDC5) NP_001139021.1:n.*1441C=
NM_001718.4:c.*1360G= (BMP6) NP_001709.1:n.*1360G=
NM_030810.3:c.*1441C= (TXNDC5) NP_110437.2:n.*1441C=
NR_037616.1:n.2899C= (BLOC1S5-TXNDC5)
NM_001145549.3:c.*1441C= (TXNDC5) NP_001139021.1:n.*1441C=
NM_001718.5:c.*1360G= (BMP6) NP_001709.1:n.*1360G=
NM_030810.4:c.*1441C= (TXNDC5) NP_110437.2:n.*1441C=
NM_001718.6:c.*1360G= (BMP6) MANE Select NP_001709.1:n.*1360G=
NM_030810.5:c.*1441C= (TXNDC5) MANE Select NP_110437.2:n.*1441C=
NM_001145549.4:c.*1441C= (TXNDC5) NP_001139021.1:n.*1441C=