Canonical Allele Identifier: CA15744345
Gene: RAB5B HGNC NCBI
SUOX HGNC NCBI
dbSNP:
11171718
gnomAD v2:
12:56389622 G / A
gnomAD v3:
12:55995838 G / A
gnomAD v4:
chr12-55995838-G-A
Joint Max Group AF 0.28897774 (SAS)
Genomes Max Group AF 0.28897774 (SAS)
MyVariant.info:
GRCh38 chr12:g.55995838G>A
GRCh37 chr12:g.56389622G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55995838G>A , CM000674.2:g.55995838G>A GRCh38
NC_000012.11:g.56389622G>A , CM000674.1:g.56389622G>A GRCh37
NC_000012.10:g.54675889G>A NCBI36
NG_008136.1:g.3580G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360299.10:c.*3626G>A (RAB5B) MANE Select ENSP00000353444.5:n.*3626G>A
ENST00000360299.9:c.*3626G>A (RAB5B) ENSP00000353444.5:n.*3626G>A
NM_001252036.1:c.*3626G>A (RAB5B) NP_001238965.1:n.*3626G>A
NM_001252037.1:c.*3626G>A (RAB5B) NP_001238966.1:n.*3626G>A
NM_002868.3:c.*3626G>A (RAB5B) NP_002859.1:n.*3626G>A
XM_017019905.2:c.-1789G>A (SUOX) XP_016875394.1:n.-1789G>A
XM_017019907.2:c.-1879G>A (SUOX) XP_016875396.1:n.-1879G>A
XM_024449167.1:c.-1663G>A (SUOX) XP_024304935.1:n.-1663G>A
NM_002868.4:c.*3626G>A (RAB5B) MANE Select NP_002859.1:n.*3626G>A
NM_001252036.2:c.*3626G>A (RAB5B) NP_001238965.1:n.*3626G>A
NM_001252037.2:c.*3626G>A (RAB5B) NP_001238966.1:n.*3626G>A
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