Canonical Allele Identifier: CA2520811316

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72060061G>T , CM000678.2:g.72060061G>T GRCh38
NC_000016.9:g.72093960G>T , CM000678.1:g.72093960G>T GRCh37
NC_000016.8:g.70651461G>T NCBI36
NG_012651.1:g.10453G>T
NG_030311.1:g.1836G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355906.10:c.443-51G>T (HP) MANE Select ENSP00000348170.5:n.443-51G>T
ENST00000228226.12:c.94-77G>T (HP) ENSP00000228226.9:n.94-77G>T
ENST00000355906.9:c.443-51G>T (HP) ENSP00000348170.5:n.443-51G>T
ENST00000357763.8:c.551-51G>T (HP) ENSP00000350406.5:n.551-51G>T
ENST00000398131.6:c.266-51G>T (HP) ENSP00000381199.2:n.266-51G>T
ENST00000562153.5:c.285-15704C>A (TXNL4B) ENSP00000454635.1:n.285-15704C>A
ENST00000562526.5:c.266-602G>T (HP) ENSP00000454413.1:n.266-602G>T
ENST00000564499.5:c.266-171G>T (HP) ENSP00000456503.1:n.266-171G>T
ENST00000565574.5:c.266-51G>T (HP) ENSP00000454966.1:n.266-51G>T
ENST00000566821.1:n.2082-51G>T (HP)
ENST00000567185.7:c.435-51G>T (HP)
ENST00000567612.2:c.438-171G>T (HP)
ENST00000570083.5:c.266-51G>T (HP) ENSP00000457629.1:n.266-51G>T
ENST00000613898.1:c.95-78G>T (HP) ENSP00000478279.1:n.95-78G>T
NM_001126102.1:c.266-51G>T (HP) NP_001119574.1:n.266-51G>T
NM_005143.3:c.443-51G>T (HP) NP_005134.1:n.443-51G>T
XM_005255922.3:c.266-51G>T (HP) XP_005255979.2:n.266-51G>T
NM_001126102.2:c.266-51G>T (HP) NP_001119574.1:n.266-51G>T
NM_001318138.1:c.266-51G>T (HP) NP_001305067.1:n.266-51G>T
NM_005143.4:c.443-51G>T (HP) NP_005134.1:n.443-51G>T
XM_017023377.2:c.285-15704C>A (TXNL4B) XP_016878866.1:n.285-15704C>A
NM_001318138.2:c.266-51G>T (HP) NP_001305067.1:n.266-51G>T
NM_005143.5:c.443-51G>T (HP) MANE Select NP_005134.1:n.443-51G>T
NM_001126102.3:c.266-51G>T (HP) NP_001119574.1:n.266-51G>T