Canonical Allele Identifier: CA605252193

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55995781G>T , CM000674.2:g.55995781G>T GRCh38
NC_000012.11:g.56389565G>T , CM000674.1:g.56389565G>T GRCh37
NC_000012.10:g.54675832G>T NCBI36
NG_008136.1:g.3523G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360299.10:c.*3569G>T (RAB5B) MANE Select ENSP00000353444.5:n.*3569G>T
ENST00000360299.9:c.*3569G>T (RAB5B) ENSP00000353444.5:n.*3569G>T
NM_001252036.1:c.*3569G>T (RAB5B) NP_001238965.1:n.*3569G>T
NM_001252037.1:c.*3569G>T (RAB5B) NP_001238966.1:n.*3569G>T
NM_002868.3:c.*3569G>T (RAB5B) NP_002859.1:n.*3569G>T
XM_017019905.2:c.-1846G>T (SUOX) XP_016875394.1:n.-1846G>T
XM_017019907.2:c.-1936G>T (SUOX) XP_016875396.1:n.-1936G>T
XM_024449167.1:c.-1720G>T (SUOX) XP_024304935.1:n.-1720G>T
NM_002868.4:c.*3569G>T (RAB5B) MANE Select NP_002859.1:n.*3569G>T
NM_001252036.2:c.*3569G>T (RAB5B) NP_001238965.1:n.*3569G>T
NM_001252037.2:c.*3569G>T (RAB5B) NP_001238966.1:n.*3569G>T