Canonical Allele Identifier: CA322687419
Community Standard Title: NM_001288833.2(GGT1):c.383-254A>G
Gene: GGT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.24620074A>G , CM000684.2:g.24620074A>G GRCh38
NC_000022.10:g.25016041A>G , CM000684.1:g.25016041A>G GRCh37
NC_000022.9:g.23346041A>G NCBI36
NG_008111.1:g.41324A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001288833.2:c.383-254A>G MANE Select NP_001275762.1:n.383-254A>G
ENST00000400382.6:c.383-254A>G MANE Select ENSP00000383232.1:n.383-254A>G
NM_001288833.1:c.383-254A>G NP_001275762.1:n.383-254A>G
NM_013421.2:c.383-254A>G NP_038265.2:n.383-254A>G
NM_013421.3:c.383-254A>G NP_038265.2:n.383-254A>G
NM_013430.2:c.383-254A>G NP_038347.2:n.383-254A>G
NM_013430.3:c.383-254A>G NP_038347.2:n.383-254A>G
ENST00000248923.8:c.383-254A>G ENSP00000248923.4:n.383-254A>G
ENST00000400380.5:c.383-254A>G ENSP00000383231.1:n.383-254A>G
ENST00000400382.5:c.383-254A>G ENSP00000383232.1:n.383-254A>G
ENST00000412658.5:c.383-254A>G ENSP00000393537.1:n.383-254A>G
ENST00000419133.5:c.383-254A>G ENSP00000395271.1:n.383-254A>G
ENST00000425895.5:c.383-254A>G ENSP00000387499.1:n.383-254A>G
ENST00000487766.1:n.133-254A>G
ENST00000651180.1:n.870-254A>G
ENST00000652248.1:c.*873-254A>G ENSP00000499210.1:n.*873-254A>G