Canonical Allele Identifier: CA2398340324
Community Standard Title: NC_000022.11:g.24603137C=

Genomic Alleles

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

Transcript Alleles

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