Canonical Allele Identifier: CA237603286
Gene: RAB5B HGNC NCBI
SUOX HGNC NCBI
dbSNP:
58717357
gnomAD v2:
12:56389565 G / C
gnomAD v3:
12:55995781 G / C
gnomAD v4:
chr12-55995781-G-C
Joint Max Group AF 0.24744056 (AFR)
Genomes Max Group AF 0.24744056 (AFR)
MyVariant.info:
GRCh38 chr12:g.55995781G>C
GRCh37 chr12:g.56389565G>C
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Genomic Alleles

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

Transcript Alleles

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