Canonical Allele Identifier: CA283640615

Gene: HP TXNL4B

Linked Data

• dbSNP Id: rs1024069370
• gnomAD v4: 16-72060211-C-T
• MyVariant Identifiers: chr16:g.72094110C>T (hg19) ; chr16:g.72060211C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.72060211C>T , CM000678.2:g.72060211C>T	GRCh38
NC_000016.9:g.72094110C>T , CM000678.1:g.72094110C>T	GRCh37
NC_000016.8:g.70651611C>T	NCBI36
NG_012651.1:g.10603C>T
NG_030311.1:g.1986C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355906.10:c.542C>T (HP) MANE Select	ENSP00000348170.5:p.Ser181Phe
ENST00000228226.12:c.167C>T (HP)	ENSP00000228226.9:p.Ser56Phe
ENST00000355906.9:c.542C>T (HP)	ENSP00000348170.5:p.Ser181Phe
ENST00000357763.8:c.650C>T (HP)	ENSP00000350406.5:p.Ser217Phe
ENST00000398131.6:c.365C>T (HP)	ENSP00000381199.2:p.Ser122Phe
ENST00000562153.5:c.285-15854G>A (TXNL4B)	ENSP00000454635.1:n.285-15854G>A
ENST00000562526.5:c.266-452C>T (HP)	ENSP00000454413.1:n.266-452C>T
ENST00000564499.5:c.266-21C>T (HP)	ENSP00000456503.1:n.266-21C>T
ENST00000565574.5:c.365C>T (HP)	ENSP00000454966.1:p.Ser122Phe
ENST00000566821.1:n.2181C>T (HP)
ENST00000567185.7:c.534C>T (HP)
ENST00000567612.2:c.438-21C>T (HP)
ENST00000570083.5:c.365C>T (HP)	ENSP00000457629.1:p.Ser122Phe
ENST00000613898.1:c.167C>T (HP)	ENSP00000478279.1:p.Ser56Phe
NM_001126102.1:c.365C>T (HP)	NP_001119574.1:p.Ser122Phe
NM_005143.3:c.542C>T (HP)	NP_005134.1:p.Ser181Phe
XM_005255922.3:c.365C>T (HP)	XP_005255979.2:p.Ser122Phe
NM_001126102.2:c.365C>T (HP)	NP_001119574.1:p.Ser122Phe
NM_001318138.1:c.365C>T (HP)	NP_001305067.1:p.Ser122Phe
NM_005143.4:c.542C>T (HP)	NP_005134.1:p.Ser181Phe
XM_017023377.2:c.285-15854G>A (TXNL4B)	XP_016878866.1:n.285-15854G>A
NM_001318138.2:c.365C>T (HP)	NP_001305067.1:p.Ser122Phe
NM_005143.5:c.542C>T (HP) MANE Select	NP_005134.1:p.Ser181Phe
NM_001126102.3:c.365C>T (HP)	NP_001119574.1:p.Ser122Phe