Canonical Allele Identifier: CA2683241048
Gene: BUD23 HGNC NCBI

Linked Data

gnomAD v4: 7-73683580-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683580G>T , CM000669.2:g.73683580G>T GRCh38
NC_000007.13:g.73097910G>T , CM000669.1:g.73097910G>T GRCh37
NC_000007.12:g.72735846G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265758.6:c.-46G>T ENSP00000265758.2:n.-46G>T
ENST00000421304.5:c.-258G>T ENSP00000391761.2:n.-258G>T
ENST00000421744.5:c.-46G>T ENSP00000404981.1:n.-46G>T
ENST00000432522.5:c.-46G>T ENSP00000390136.1:n.-46G>T
ENST00000464615.1:n.359+197G>T
NM_001202560.2:c.-46G>T NP_001189489.1:n.-46G>T
NM_017528.4:c.-46G>T NP_059998.2:n.-46G>T
NR_037776.2:n.13G>T
NR_045512.1:n.13G>T
XM_006715847.1:c.-74G>T XP_006715910.1:n.-74G>T
XM_011515778.1:c.-74G>T XP_011514080.1:n.-74G>T
XM_011515779.1:c.-46G>T XP_011514081.1:n.-46G>T
XR_927349.1:n.15G>T
XR_927350.1:n.15G>T
XM_011515779.2:c.-46G>T XP_011514081.1:n.-46G>T
XR_002956407.1:n.10G>T