Canonical Allele Identifier: CA2677219848

Gene: BMP6 TXNDC5 BLOC1S5-TXNDC5

Linked Data

• gnomAD v4: 6-7881720-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7881720T>C , CM000668.2:g.7881720T>C	GRCh38
NC_000006.11:g.7881953T>C , CM000668.1:g.7881953T>C	GRCh37
NC_000006.10:g.7826952T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283147.7:c.*1377T>C (BMP6) MANE Select	ENSP00000283147.6:n.*1377T>C
ENST00000379757.9:c.*1424A>G (TXNDC5) MANE Select	ENSP00000369081.4:n.*1424A>G
ENST00000379757.8:c.*1424A>G (TXNDC5)	ENSP00000369081.4:n.*1424A>G
ENST00000439343.2:c.2832A>G (BLOC1S5-TXNDC5)	ENSP00000454697.1:n.2832A>G
ENST00000460138.5:n.2501A>G (TXNDC5)
NM_001145549.2:c.*1424A>G (TXNDC5)	NP_001139021.1:n.*1424A>G
NM_001718.4:c.*1377T>C (BMP6)	NP_001709.1:n.*1377T>C
NM_030810.3:c.*1424A>G (TXNDC5)	NP_110437.2:n.*1424A>G
NR_037616.1:n.2882A>G (BLOC1S5-TXNDC5)
NM_001145549.3:c.*1424A>G (TXNDC5)	NP_001139021.1:n.*1424A>G
NM_001718.5:c.*1377T>C (BMP6)	NP_001709.1:n.*1377T>C
NM_030810.4:c.*1424A>G (TXNDC5)	NP_110437.2:n.*1424A>G
NM_001718.6:c.*1377T>C (BMP6) MANE Select	NP_001709.1:n.*1377T>C
NM_030810.5:c.*1424A>G (TXNDC5) MANE Select	NP_110437.2:n.*1424A>G
NM_001145549.4:c.*1424A>G (TXNDC5)	NP_001139021.1:n.*1424A>G