Canonical Allele Identifier: CA8159219

Gene: HP TXNL4B

Linked Data

• dbSNP Id: rs570951185
• ExAC: 16:72094490 C / A
• gnomAD v2: 16-72094490-C-A
• gnomAD v4: 16-72060591-C-A
• MyVariant Identifiers: chr16:g.72094490C>A (hg19) ; chr16:g.72060591C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.72060591C>A , CM000678.2:g.72060591C>A	GRCh38
NC_000016.9:g.72094490C>A , CM000678.1:g.72094490C>A	GRCh37
NC_000016.8:g.70651991C>A	NCBI36
NG_012651.1:g.10983C>A
NG_030311.1:g.2366C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355906.10:c.922C>A (HP) MANE Select	ENSP00000348170.5:p.Gln308Lys
ENST00000228226.12:c.547C>A (HP)	ENSP00000228226.9:p.Gln183Lys
ENST00000355906.9:c.922C>A (HP)	ENSP00000348170.5:p.Gln308Lys
ENST00000357763.8:c.1030C>A (HP)	ENSP00000350406.5:p.Gln344Lys
ENST00000398131.6:c.745C>A (HP)	ENSP00000381199.2:p.Gln249Lys
ENST00000562153.5:c.285-16234G>T (TXNL4B)	ENSP00000454635.1:n.285-16234G>T
ENST00000562526.5:c.266-72C>A (HP)	ENSP00000454413.1:n.266-72C>A
ENST00000564499.5:c.625C>A (HP)	ENSP00000456503.1:p.Gln209Lys
ENST00000565574.5:c.745C>A (HP)	ENSP00000454966.1:p.Gln249Lys
ENST00000566821.1:n.2561C>A (HP)
ENST00000567185.7:c.914C>A (HP)
ENST00000567612.2:c.797C>A (HP)
ENST00000570083.5:c.745C>A (HP)	ENSP00000457629.1:p.Gln249Lys
ENST00000613898.1:c.547C>A (HP)	ENSP00000478279.1:p.Gln183Lys
NM_001126102.1:c.745C>A (HP)	NP_001119574.1:p.Gln249Lys
NM_005143.3:c.922C>A (HP)	NP_005134.1:p.Gln308Lys
XM_005255922.3:c.745C>A (HP)	XP_005255979.2:p.Gln249Lys
NM_001126102.2:c.745C>A (HP)	NP_001119574.1:p.Gln249Lys
NM_001318138.1:c.745C>A (HP)	NP_001305067.1:p.Gln249Lys
NM_005143.4:c.922C>A (HP)	NP_005134.1:p.Gln308Lys
XM_017023377.2:c.285-16234G>T (TXNL4B)	XP_016878866.1:n.285-16234G>T
NM_001318138.2:c.745C>A (HP)	NP_001305067.1:p.Gln249Lys
NM_005143.5:c.922C>A (HP) MANE Select	NP_005134.1:p.Gln308Lys
NM_001126102.3:c.745C>A (HP)	NP_001119574.1:p.Gln249Lys