Canonical Allele Identifier: CA8159164

Gene: HP TXNL4B

Linked Data

• dbSNP Id: rs749737759
• ExAC: 16:72094237 C / G
• gnomAD v2: 16-72094237-C-G
• gnomAD v3: 16-72060338-C-G
• gnomAD v4: 16-72060338-C-G
• MyVariant Identifiers: chr16:g.72094237C>G (hg19) ; chr16:g.72060338C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.72060338C>G , CM000678.2:g.72060338C>G	GRCh38
NC_000016.9:g.72094237C>G , CM000678.1:g.72094237C>G	GRCh37
NC_000016.8:g.70651738C>G	NCBI36
NG_012651.1:g.10730C>G
NG_030311.1:g.2113C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355906.10:c.669C>G (HP) MANE Select	ENSP00000348170.5:p.Leu223=
ENST00000228226.12:c.294C>G (HP)	ENSP00000228226.9:p.Leu98=
ENST00000355906.9:c.669C>G (HP)	ENSP00000348170.5:p.Leu223=
ENST00000357763.8:c.777C>G (HP)	ENSP00000350406.5:p.Leu259=
ENST00000398131.6:c.492C>G (HP)	ENSP00000381199.2:p.Leu164=
ENST00000562153.5:c.285-15981G>C (TXNL4B)	ENSP00000454635.1:n.285-15981G>C
ENST00000562526.5:c.266-325C>G (HP)	ENSP00000454413.1:n.266-325C>G
ENST00000564499.5:c.372C>G (HP)	ENSP00000456503.1:p.Leu124=
ENST00000565574.5:c.492C>G (HP)	ENSP00000454966.1:p.Leu164=
ENST00000566821.1:n.2308C>G (HP)
ENST00000567185.7:c.661C>G (HP)
ENST00000567612.2:c.544C>G (HP)
ENST00000570083.5:c.492C>G (HP)	ENSP00000457629.1:p.Leu164=
ENST00000613898.1:c.294C>G (HP)	ENSP00000478279.1:p.Leu98=
NM_001126102.1:c.492C>G (HP)	NP_001119574.1:p.Leu164=
NM_005143.3:c.669C>G (HP)	NP_005134.1:p.Leu223=
XM_005255922.3:c.492C>G (HP)	XP_005255979.2:p.Leu164=
NM_001126102.2:c.492C>G (HP)	NP_001119574.1:p.Leu164=
NM_001318138.1:c.492C>G (HP)	NP_001305067.1:p.Leu164=
NM_005143.4:c.669C>G (HP)	NP_005134.1:p.Leu223=
XM_017023377.2:c.285-15981G>C (TXNL4B)	XP_016878866.1:n.285-15981G>C
NM_001318138.2:c.492C>G (HP)	NP_001305067.1:p.Leu164=
NM_005143.5:c.669C>G (HP) MANE Select	NP_005134.1:p.Leu223=
NM_001126102.3:c.492C>G (HP)	NP_001119574.1:p.Leu164=