Canonical Allele Identifier: CA396676453

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72060199C>G , CM000678.2:g.72060199C>G GRCh38
NC_000016.9:g.72094098C>G , CM000678.1:g.72094098C>G GRCh37
NC_000016.8:g.70651599C>G NCBI36
NG_012651.1:g.10591C>G
NG_030311.1:g.1974C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355906.10:c.530C>G (HP) MANE Select ENSP00000348170.5:p.Ala177Gly
ENST00000228226.12:c.155C>G (HP) ENSP00000228226.9:p.Ala52Gly
ENST00000355906.9:c.530C>G (HP) ENSP00000348170.5:p.Ala177Gly
ENST00000357763.8:c.638C>G (HP) ENSP00000350406.5:p.Ala213Gly
ENST00000398131.6:c.353C>G (HP) ENSP00000381199.2:p.Ala118Gly
ENST00000562153.5:c.285-15842G>C (TXNL4B) ENSP00000454635.1:n.285-15842G>C
ENST00000562526.5:c.266-464C>G (HP) ENSP00000454413.1:n.266-464C>G
ENST00000564499.5:c.266-33C>G (HP) ENSP00000456503.1:n.266-33C>G
ENST00000565574.5:c.353C>G (HP) ENSP00000454966.1:p.Ala118Gly
ENST00000566821.1:n.2169C>G (HP)
ENST00000567185.7:c.522C>G (HP)
ENST00000567612.2:c.438-33C>G (HP)
ENST00000570083.5:c.353C>G (HP) ENSP00000457629.1:p.Ala118Gly
ENST00000613898.1:c.155C>G (HP) ENSP00000478279.1:p.Ala52Gly
NM_001126102.1:c.353C>G (HP) NP_001119574.1:p.Ala118Gly
NM_005143.3:c.530C>G (HP) NP_005134.1:p.Ala177Gly
XM_005255922.3:c.353C>G (HP) XP_005255979.2:p.Ala118Gly
NM_001126102.2:c.353C>G (HP) NP_001119574.1:p.Ala118Gly
NM_001318138.1:c.353C>G (HP) NP_001305067.1:p.Ala118Gly
NM_005143.4:c.530C>G (HP) NP_005134.1:p.Ala177Gly
XM_017023377.2:c.285-15842G>C (TXNL4B) XP_016878866.1:n.285-15842G>C
NM_001318138.2:c.353C>G (HP) NP_001305067.1:p.Ala118Gly
NM_005143.5:c.530C>G (HP) MANE Select NP_005134.1:p.Ala177Gly
NM_001126102.3:c.353C>G (HP) NP_001119574.1:p.Ala118Gly