Canonical Allele Identifier: CA2398340325
Gene: GGT1 HGNC NCBI
SNRPD3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.24603137C>A , CM000684.2:g.24603137C>A GRCh38
NC_000022.10:g.24999104C>A , CM000684.1:g.24999104C>A GRCh37
NC_000022.9:g.23329104C>A NCBI36
NG_008111.1:g.24387C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651180.1:n.60-4817C>A
ENST00000652248.1:c.*168-4817C>A ENSP00000499210.1:n.*168-4817C>A
ENST00000248923.8:c.-428-4817C>A (GGT1) ENSP00000248923.4:n.-428-4817C>A
ENST00000404603.5:c.*168-4817C>A (SNRPD3) ENSP00000456090.1:n.*168-4817C>A
ENST00000411974.5:c.-323-4817C>A (GGT1) ENSP00000389935.1:n.-323-4817C>A
ENST00000439775.1:c.*163-4817C>A (SNRPD3) ENSP00000456969.1:n.*163-4817C>A
ENST00000456869.5:c.-431-4817C>A (GGT1) ENSP00000415129.1:n.-431-4817C>A
NM_013430.2:c.-428-4817C>A (GGT1) NP_038347.2:n.-428-4817C>A
NM_013430.3:c.-428-4817C>A (GGT1) NP_038347.2:n.-428-4817C>A
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