Canonical Allele Identifier: CA134544998

Gene: BMP6 TXNDC5 BLOC1S5-TXNDC5

Linked Data

• dbSNP Id: rs549603817
• gnomAD v2: 6-7881951-C-T
• gnomAD v3: 6-7881718-C-T
• gnomAD v4: 6-7881718-C-T
• MyVariant Identifiers: chr6:g.7881951C>T (hg19) ; chr6:g.7881718C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7881718C>T , CM000668.2:g.7881718C>T	GRCh38
NC_000006.11:g.7881951C>T , CM000668.1:g.7881951C>T	GRCh37
NC_000006.10:g.7826950C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000283147.7:c.*1375C>T (BMP6) MANE Select	ENSP00000283147.6:n.*1375C>T
ENST00000379757.9:c.*1426G>A (TXNDC5) MANE Select	ENSP00000369081.4:n.*1426G>A
ENST00000379757.8:c.*1426G>A (TXNDC5)	ENSP00000369081.4:n.*1426G>A
ENST00000439343.2:c.2834G>A (BLOC1S5-TXNDC5)	ENSP00000454697.1:n.2834G>A
ENST00000460138.5:n.2503G>A (TXNDC5)
NM_001145549.2:c.*1426G>A (TXNDC5)	NP_001139021.1:n.*1426G>A
NM_001718.4:c.*1375C>T (BMP6)	NP_001709.1:n.*1375C>T
NM_030810.3:c.*1426G>A (TXNDC5)	NP_110437.2:n.*1426G>A
NR_037616.1:n.2884G>A (BLOC1S5-TXNDC5)
NM_001145549.3:c.*1426G>A (TXNDC5)	NP_001139021.1:n.*1426G>A
NM_001718.5:c.*1375C>T (BMP6)	NP_001709.1:n.*1375C>T
NM_030810.4:c.*1426G>A (TXNDC5)	NP_110437.2:n.*1426G>A
NM_001718.6:c.*1375C>T (BMP6) MANE Select	NP_001709.1:n.*1375C>T
NM_030810.5:c.*1426G>A (TXNDC5) MANE Select	NP_110437.2:n.*1426G>A
NM_001145549.4:c.*1426G>A (TXNDC5)	NP_001139021.1:n.*1426G>A