Canonical Allele Identifier: CA3416890

Gene: TXNDC15

Linked Data

• dbSNP Id: rs762584558
• ExAC: 5:134229186 T / A
• gnomAD v2: 5-134229186-T-A
• gnomAD v4: 5-134893496-T-A
• MyVariant Identifiers: chr5:g.134229186T>A (hg19) ; chr5:g.134893496T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134893496T>A , CM000667.2:g.134893496T>A	GRCh38
NC_000005.9:g.134229186T>A , CM000667.1:g.134229186T>A	GRCh37
NC_000005.8:g.134257085T>A	NCBI36
NG_053174.1:g.24727T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000358387.9:c.596T>A MANE Select	ENSP00000351157.5:p.Leu199His
ENST00000358387.8:c.596T>A	ENSP00000351157.4:p.Leu199His
ENST00000505174.1:n.1319T>A
ENST00000506350.1:n.35T>A
ENST00000507024.5:c.*414T>A	ENSP00000424716.1:n.*414T>A
ENST00000508779.1:c.547T>A
ENST00000511070.5:c.108T>A	ENSP00000423609.1:p.Pro36=
NM_024715.3:c.596T>A	NP_078991.3:p.Leu199His
NM_001350735.1:c.392T>A	NP_001337664.1:p.Leu131His
NM_024715.4:c.596T>A MANE Select	NP_078991.3:p.Leu199His
NM_001350735.2:c.392T>A	NP_001337664.1:p.Leu131His