Canonical Allele Identifier: CA396677756

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72060457T>A , CM000678.2:g.72060457T>A GRCh38
NC_000016.9:g.72094356T>A , CM000678.1:g.72094356T>A GRCh37
NC_000016.8:g.70651857T>A NCBI36
NG_012651.1:g.10849T>A
NG_030311.1:g.2232T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355906.10:c.788T>A (HP) MANE Select ENSP00000348170.5:p.Met263Lys
ENST00000228226.12:c.413T>A (HP) ENSP00000228226.9:p.Met138Lys
ENST00000355906.9:c.788T>A (HP) ENSP00000348170.5:p.Met263Lys
ENST00000357763.8:c.896T>A (HP) ENSP00000350406.5:p.Met299Lys
ENST00000398131.6:c.611T>A (HP) ENSP00000381199.2:p.Met204Lys
ENST00000562153.5:c.285-16100A>T (TXNL4B) ENSP00000454635.1:n.285-16100A>T
ENST00000562526.5:c.266-206T>A (HP) ENSP00000454413.1:n.266-206T>A
ENST00000564499.5:c.491T>A (HP) ENSP00000456503.1:p.Met164Lys
ENST00000565574.5:c.611T>A (HP) ENSP00000454966.1:p.Met204Lys
ENST00000566821.1:n.2427T>A (HP)
ENST00000567185.7:c.780T>A (HP)
ENST00000567612.2:c.663T>A (HP)
ENST00000570083.5:c.611T>A (HP) ENSP00000457629.1:p.Met204Lys
ENST00000613898.1:c.413T>A (HP) ENSP00000478279.1:p.Met138Lys
NM_001126102.1:c.611T>A (HP) NP_001119574.1:p.Met204Lys
NM_005143.3:c.788T>A (HP) NP_005134.1:p.Met263Lys
XM_005255922.3:c.611T>A (HP) XP_005255979.2:p.Met204Lys
NM_001126102.2:c.611T>A (HP) NP_001119574.1:p.Met204Lys
NM_001318138.1:c.611T>A (HP) NP_001305067.1:p.Met204Lys
NM_005143.4:c.788T>A (HP) NP_005134.1:p.Met263Lys
XM_017023377.2:c.285-16100A>T (TXNL4B) XP_016878866.1:n.285-16100A>T
NM_001318138.2:c.611T>A (HP) NP_001305067.1:p.Met204Lys
NM_005143.5:c.788T>A (HP) MANE Select NP_005134.1:p.Met263Lys
NM_001126102.3:c.611T>A (HP) NP_001119574.1:p.Met204Lys