Canonical Allele Identifier: CA396676363

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72060181G>C , CM000678.2:g.72060181G>C GRCh38
NC_000016.9:g.72094080G>C , CM000678.1:g.72094080G>C GRCh37
NC_000016.8:g.70651581G>C NCBI36
NG_012651.1:g.10573G>C
NG_030311.1:g.1956G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355906.10:c.512G>C (HP) MANE Select ENSP00000348170.5:p.Gly171Ala
ENST00000228226.12:c.137G>C (HP) ENSP00000228226.9:p.Gly46Ala
ENST00000355906.9:c.512G>C (HP) ENSP00000348170.5:p.Gly171Ala
ENST00000357763.8:c.620G>C (HP) ENSP00000350406.5:p.Gly207Ala
ENST00000398131.6:c.335G>C (HP) ENSP00000381199.2:p.Gly112Ala
ENST00000562153.5:c.285-15824C>G (TXNL4B) ENSP00000454635.1:n.285-15824C>G
ENST00000562526.5:c.266-482G>C (HP) ENSP00000454413.1:n.266-482G>C
ENST00000564499.5:c.266-51G>C (HP) ENSP00000456503.1:n.266-51G>C
ENST00000565574.5:c.335G>C (HP) ENSP00000454966.1:p.Gly112Ala
ENST00000566821.1:n.2151G>C (HP)
ENST00000567185.7:c.504G>C (HP)
ENST00000567612.2:c.438-51G>C (HP)
ENST00000570083.5:c.335G>C (HP) ENSP00000457629.1:p.Gly112Ala
ENST00000613898.1:c.137G>C (HP) ENSP00000478279.1:p.Gly46Ala
NM_001126102.1:c.335G>C (HP) NP_001119574.1:p.Gly112Ala
NM_005143.3:c.512G>C (HP) NP_005134.1:p.Gly171Ala
XM_005255922.3:c.335G>C (HP) XP_005255979.2:p.Gly112Ala
NM_001126102.2:c.335G>C (HP) NP_001119574.1:p.Gly112Ala
NM_001318138.1:c.335G>C (HP) NP_001305067.1:p.Gly112Ala
NM_005143.4:c.512G>C (HP) NP_005134.1:p.Gly171Ala
XM_017023377.2:c.285-15824C>G (TXNL4B) XP_016878866.1:n.285-15824C>G
NM_001318138.2:c.335G>C (HP) NP_001305067.1:p.Gly112Ala
NM_005143.5:c.512G>C (HP) MANE Select NP_005134.1:p.Gly171Ala
NM_001126102.3:c.335G>C (HP) NP_001119574.1:p.Gly112Ala