Canonical Allele Identifier: CA828417257

Gene: TXNDC5 BLOC1S5-TXNDC5

Linked Data

• dbSNP Id: rs1416889873
• gnomAD v3: 6-7884854-C-T
• gnomAD v4: 6-7884854-C-T
• MyVariant Identifiers: chr6:g.7885087C>T (hg19) ; chr6:g.7884854C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7884854C>T , CM000668.2:g.7884854C>T	GRCh38
NC_000006.11:g.7885087C>T , CM000668.1:g.7885087C>T	GRCh37
NC_000006.10:g.7830086C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000379757.9:c.1047-366G>A (TXNDC5) MANE Select	ENSP00000369081.4:n.1047-366G>A
ENST00000379757.8:c.1047-366G>A (TXNDC5)	ENSP00000369081.4:n.1047-366G>A
ENST00000439343.2:c.1156-366G>A (BLOC1S5-TXNDC5)	ENSP00000454697.1:n.1156-366G>A
ENST00000460138.5:n.825-366G>A (TXNDC5)
ENST00000473453.2:c.723-366G>A (TXNDC5)	ENSP00000420784.1:n.723-366G>A
ENST00000475802.1:n.341-366G>A (TXNDC5)
NM_001145549.2:c.723-366G>A (TXNDC5)	NP_001139021.1:n.723-366G>A
NM_030810.3:c.1047-366G>A (TXNDC5)	NP_110437.2:n.1047-366G>A
NR_037616.1:n.1206-366G>A (BLOC1S5-TXNDC5)
NM_001145549.3:c.723-366G>A (TXNDC5)	NP_001139021.1:n.723-366G>A
NM_030810.4:c.1047-366G>A (TXNDC5)	NP_110437.2:n.1047-366G>A
NM_030810.5:c.1047-366G>A (TXNDC5) MANE Select	NP_110437.2:n.1047-366G>A
NM_001145549.4:c.723-366G>A (TXNDC5)	NP_001139021.1:n.723-366G>A