Canonical Allele Identifier: CA16596865
Community Standard Title: NM_001288833.2(GGT1):c.164+139A>G
Gene: GGT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.24611384A>G , CM000684.2:g.24611384A>G GRCh38
NC_000022.10:g.25007351A>G , CM000684.1:g.25007351A>G GRCh37
NC_000022.9:g.23337351A>G NCBI36
NG_008111.1:g.32634A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001288833.2:c.164+139A>G MANE Select NP_001275762.1:n.164+139A>G
ENST00000400382.6:c.164+139A>G MANE Select ENSP00000383232.1:n.164+139A>G
NM_001288833.1:c.164+139A>G NP_001275762.1:n.164+139A>G
NM_013421.2:c.164+139A>G NP_038265.2:n.164+139A>G
NM_013421.3:c.164+139A>G NP_038265.2:n.164+139A>G
NM_013430.2:c.164+139A>G NP_038347.2:n.164+139A>G
NM_013430.3:c.164+139A>G NP_038347.2:n.164+139A>G
ENST00000248923.8:c.164+139A>G ENSP00000248923.4:n.164+139A>G
ENST00000400380.5:c.164+139A>G ENSP00000383231.1:n.164+139A>G
ENST00000400382.5:c.164+139A>G ENSP00000383232.1:n.164+139A>G
ENST00000411974.5:c.164+139A>G ENSP00000389935.1:n.164+139A>G
ENST00000412658.5:c.164+139A>G ENSP00000393537.1:n.164+139A>G
ENST00000412898.5:c.164+139A>G ENSP00000408151.1:n.164+139A>G
ENST00000419133.5:c.164+139A>G ENSP00000395271.1:n.164+139A>G
ENST00000425895.5:c.164+139A>G ENSP00000387499.1:n.164+139A>G
ENST00000428855.5:c.164+139A>G ENSP00000415068.1:n.164+139A>G
ENST00000430289.5:c.164+139A>G ENSP00000417044.1:n.164+139A>G
ENST00000432867.5:c.164+139A>G ENSP00000398589.1:n.164+139A>G
ENST00000445029.5:c.164+139A>G ENSP00000393135.1:n.164+139A>G
ENST00000447416.5:c.164+139A>G ENSP00000400621.1:n.164+139A>G
ENST00000451366.5:c.164+139A>G ENSP00000387796.1:n.164+139A>G
ENST00000452551.5:c.164+139A>G ENSP00000415553.1:n.164+139A>G
ENST00000455483.5:c.164+139A>G ENSP00000415024.1:n.164+139A>G
ENST00000474191.6:n.337+139A>G
ENST00000651180.1:n.651+139A>G
ENST00000652248.1:c.*654+139A>G ENSP00000499210.1:n.*654+139A>G