Canonical Allele Identifier: CA690163019

Gene: RAB5B SUOX

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55996580C>T , CM000674.2:g.55996580C>T	GRCh38
NC_000012.11:g.56390364C>T , CM000674.1:g.56390364C>T	GRCh37
NC_000012.10:g.54676631C>T	NCBI36
NG_008136.1:g.4322C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360299.10:c.*4368C>T (RAB5B) MANE Select	ENSP00000353444.5:n.*4368C>T
ENST00000360299.9:c.*4368C>T (RAB5B)	ENSP00000353444.5:n.*4368C>T
NM_001252036.1:c.*4368C>T (RAB5B)	NP_001238965.1:n.*4368C>T
NM_001252037.1:c.*4368C>T (RAB5B)	NP_001238966.1:n.*4368C>T
NM_002868.3:c.*4368C>T (RAB5B)	NP_002859.1:n.*4368C>T
XM_017019905.2:c.-1047C>T (SUOX)	XP_016875394.1:n.-1047C>T
XM_017019907.2:c.-1137C>T (SUOX)	XP_016875396.1:n.-1137C>T
XM_024449167.1:c.-921C>T (SUOX)	XP_024304935.1:n.-921C>T
NM_002868.4:c.*4368C>T (RAB5B) MANE Select	NP_002859.1:n.*4368C>T
NM_001252036.2:c.*4368C>T (RAB5B)	NP_001238965.1:n.*4368C>T
NM_001252037.2:c.*4368C>T (RAB5B)	NP_001238966.1:n.*4368C>T