Canonical Allele Identifier: CA10154339
Gene: GGT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.24615142A>C , CM000684.2:g.24615142A>C GRCh38
NC_000022.10:g.25011109A>C , CM000684.1:g.25011109A>C GRCh37
NC_000022.9:g.23341109A>C NCBI36
NG_008111.1:g.36392A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001288833.2:c.382+15A>C MANE Select NP_001275762.1:n.382+15A>C
ENST00000400382.6:c.382+15A>C MANE Select ENSP00000383232.1:n.382+15A>C
NM_001288833.1:c.382+15A>C NP_001275762.1:n.382+15A>C
NM_013421.2:c.382+15A>C NP_038265.2:n.382+15A>C
NM_013421.3:c.382+15A>C NP_038265.2:n.382+15A>C
NM_013430.2:c.382+15A>C NP_038347.2:n.382+15A>C
NM_013430.3:c.382+15A>C NP_038347.2:n.382+15A>C
ENST00000248923.8:c.382+15A>C ENSP00000248923.4:n.382+15A>C
ENST00000400380.5:c.382+15A>C ENSP00000383231.1:n.382+15A>C
ENST00000400382.5:c.382+15A>C ENSP00000383232.1:n.382+15A>C
ENST00000412658.5:c.382+15A>C ENSP00000393537.1:n.382+15A>C
ENST00000419133.5:c.382+15A>C ENSP00000395271.1:n.382+15A>C
ENST00000425895.5:c.382+15A>C ENSP00000387499.1:n.382+15A>C
ENST00000474191.6:n.424+15A>C
ENST00000487766.1:n.132+15A>C
ENST00000651180.1:n.869+15A>C
ENST00000652248.1:c.*872+15A>C ENSP00000499210.1:n.*872+15A>C