Canonical Allele Identifier: CA367120805
Gene: GGCT HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30497160C>T , CM000669.2:g.30497160C>T GRCh38
NC_000007.13:g.30536776C>T , CM000669.1:g.30536776C>T GRCh37
NC_000007.12:g.30503301C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000275428.9:c.499G>A MANE Select ENSP00000275428.4:p.Asp167Asn
ENST00000005374.10:c.*18G>A ENSP00000005374.6:n.*18G>A
ENST00000275428.8:c.499G>A ENSP00000275428.4:p.Asp167Asn
ENST00000409144.5:c.217G>A ENSP00000386610.1:p.Asp73Asn
ENST00000409390.5:c.*18G>A ENSP00000387235.1:n.*18G>A
ENST00000426081.5:c.513G>A
ENST00000440082.5:c.*197G>A ENSP00000408015.1:n.*197G>A
ENST00000447901.1:c.*353G>A ENSP00000387809.1:n.*353G>A
ENST00000598361.4:c.244G>A ENSP00000470615.1:p.Asp82Asn
NM_001199815.1:c.*18G>A NP_001186744.1:n.*18G>A
NM_001199816.1:c.*18G>A NP_001186745.1:n.*18G>A
NM_001199817.1:c.217G>A NP_001186746.1:p.Asp73Asn
NM_024051.3:c.499G>A NP_076956.1:p.Asp167Asn
NR_037669.1:n.485G>A
NM_024051.4:c.499G>A MANE Select NP_076956.1:p.Asp167Asn
NM_001199815.2:c.*18G>A NP_001186744.1:n.*18G>A
NM_001199817.2:c.217G>A NP_001186746.1:p.Asp73Asn
NR_037669.2:n.473G>A
NM_001199816.2:c.*18G>A NP_001186745.1:n.*18G>A