Canonical Allele Identifier: CA8159176

Gene: HP TXNL4B

Linked Data

• dbSNP Id: rs587660
• ExAC: 16:72094295 T / C
• gnomAD v2: 16-72094295-T-C
• gnomAD v3: 16-72060396-T-C
• gnomAD v4: 16-72060396-T-C
• MyVariant Identifiers: chr16:g.72094295T>C (hg19) ; chr16:g.72060396T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.72060396T>C , CM000678.2:g.72060396T>C	GRCh38
NC_000016.9:g.72094295T>C , CM000678.1:g.72094295T>C	GRCh37
NC_000016.8:g.70651796T>C	NCBI36
NG_012651.1:g.10788T>C
NG_030311.1:g.2171T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355906.10:c.727T>C (HP) MANE Select	ENSP00000348170.5:p.Ser243Pro
ENST00000228226.12:c.352T>C (HP)	ENSP00000228226.9:p.Ser118Pro
ENST00000355906.9:c.727T>C (HP)	ENSP00000348170.5:p.Ser243Pro
ENST00000357763.8:c.835T>C (HP)	ENSP00000350406.5:p.Ser279Pro
ENST00000398131.6:c.550T>C (HP)	ENSP00000381199.2:p.Ser184Pro
ENST00000562153.5:c.285-16039A>G (TXNL4B)	ENSP00000454635.1:n.285-16039A>G
ENST00000562526.5:c.266-267T>C (HP)	ENSP00000454413.1:n.266-267T>C
ENST00000564499.5:c.430T>C (HP)	ENSP00000456503.1:p.Ser144Pro
ENST00000565574.5:c.550T>C (HP)	ENSP00000454966.1:p.Ser184Pro
ENST00000566821.1:n.2366T>C (HP)
ENST00000567185.7:c.719T>C (HP)
ENST00000567612.2:c.602T>C (HP)
ENST00000570083.5:c.550T>C (HP)	ENSP00000457629.1:p.Ser184Pro
ENST00000613898.1:c.352T>C (HP)	ENSP00000478279.1:p.Ser118Pro
NM_001126102.1:c.550T>C (HP)	NP_001119574.1:p.Ser184Pro
NM_005143.3:c.727T>C (HP)	NP_005134.1:p.Ser243Pro
XM_005255922.3:c.550T>C (HP)	XP_005255979.2:p.Ser184Pro
NM_001126102.2:c.550T>C (HP)	NP_001119574.1:p.Ser184Pro
NM_001318138.1:c.550T>C (HP)	NP_001305067.1:p.Ser184Pro
NM_005143.4:c.727T>C (HP)	NP_005134.1:p.Ser243Pro
XM_017023377.2:c.285-16039A>G (TXNL4B)	XP_016878866.1:n.285-16039A>G
NM_001318138.2:c.550T>C (HP)	NP_001305067.1:p.Ser184Pro
NM_005143.5:c.727T>C (HP) MANE Select	NP_005134.1:p.Ser243Pro
NM_001126102.3:c.550T>C (HP)	NP_001119574.1:p.Ser184Pro