Canonical Allele Identifier: CA10154536
Community Standard Title: NM_001288833.2(GGT1):c.1021-45A>C
Gene: GGT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.24627387A>C , CM000684.2:g.24627387A>C GRCh38
NC_000022.10:g.25023354A>C , CM000684.1:g.25023354A>C GRCh37
NC_000022.9:g.23353354A>C NCBI36
NG_008111.1:g.48637A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001288833.2:c.1021-45A>C MANE Select NP_001275762.1:n.1021-45A>C
ENST00000400382.6:c.1021-45A>C MANE Select ENSP00000383232.1:n.1021-45A>C
NM_001288833.1:c.1021-45A>C NP_001275762.1:n.1021-45A>C
NM_013421.2:c.1021-45A>C NP_038265.2:n.1021-45A>C
NM_013421.3:c.1021-45A>C NP_038265.2:n.1021-45A>C
NM_013430.2:c.1021-45A>C NP_038347.2:n.1021-45A>C
NM_013430.3:c.1021-45A>C NP_038347.2:n.1021-45A>C
ENST00000248923.8:c.1021-45A>C ENSP00000248923.4:n.1021-45A>C
ENST00000400380.5:c.1021-45A>C ENSP00000383231.1:n.1021-45A>C
ENST00000400382.5:c.1021-45A>C ENSP00000383232.1:n.1021-45A>C
ENST00000401885.5:c.-34-23A>C ENSP00000384381.1:n.-34-23A>C
ENST00000403838.5:c.-57A>C ENSP00000384820.1:n.-57A>C
ENST00000404532.5:c.-12-45A>C ENSP00000385445.1:n.-12-45A>C
ENST00000412658.5:c.1021-45A>C ENSP00000393537.1:n.1021-45A>C
ENST00000425895.5:c.1021-23A>C ENSP00000387499.1:n.1021-23A>C
ENST00000466310.5:n.401-23A>C
ENST00000651180.1:n.1508-45A>C
ENST00000652248.1:c.*1511-23A>C ENSP00000499210.1:n.*1511-23A>C