Canonical Allele Identifier: CA133959590

Gene: TXNDC5 BLOC1S5-TXNDC5

Linked Data

• dbSNP Id: rs1025515302
• gnomAD v3: 6-7884810-G-C
• gnomAD v4: 6-7884810-G-C
• MyVariant Identifiers: chr6:g.7885043G>C (hg19) ; chr6:g.7884810G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7884810G>C , CM000668.2:g.7884810G>C	GRCh38
NC_000006.11:g.7885043G>C , CM000668.1:g.7885043G>C	GRCh37
NC_000006.10:g.7830042G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379757.9:c.1047-322C>G (TXNDC5) MANE Select	ENSP00000369081.4:n.1047-322C>G
ENST00000379757.8:c.1047-322C>G (TXNDC5)	ENSP00000369081.4:n.1047-322C>G
ENST00000439343.2:c.1156-322C>G (BLOC1S5-TXNDC5)	ENSP00000454697.1:n.1156-322C>G
ENST00000460138.5:n.825-322C>G (TXNDC5)
ENST00000473453.2:c.723-322C>G (TXNDC5)	ENSP00000420784.1:n.723-322C>G
ENST00000475802.1:n.341-322C>G (TXNDC5)
NM_001145549.2:c.723-322C>G (TXNDC5)	NP_001139021.1:n.723-322C>G
NM_030810.3:c.1047-322C>G (TXNDC5)	NP_110437.2:n.1047-322C>G
NR_037616.1:n.1206-322C>G (BLOC1S5-TXNDC5)
NM_001145549.3:c.723-322C>G (TXNDC5)	NP_001139021.1:n.723-322C>G
NM_030810.4:c.1047-322C>G (TXNDC5)	NP_110437.2:n.1047-322C>G
NM_030810.5:c.1047-322C>G (TXNDC5) MANE Select	NP_110437.2:n.1047-322C>G
NM_001145549.4:c.723-322C>G (TXNDC5)	NP_001139021.1:n.723-322C>G