Canonical Allele Identifier: CA2679243723

Linked Data

gnomAD v4: 6-57189477-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.57189477C>A , CM000668.2:g.57189477C>A GRCh38
NC_000006.11:g.57054275C>A , CM000668.1:g.57054275C>A GRCh37
NC_000006.10:g.57162234C>A NCBI36
NG_012170.1:g.37804G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000468148.6:c.*984G>T (RAB23) MANE Select ENSP00000417610.1:n.*984G>T
ENST00000317483.4:c.*984G>T (RAB23) ENSP00000320413.3:n.*984G>T
ENST00000370693.5:c.*5287C>A (BAG2) MANE Select ENSP00000359727.4:n.*5287C>A
ENST00000468148.5:c.*984G>T (RAB23) ENSP00000417610.1:n.*984G>T
NM_001278666.1:c.*984G>T (RAB23) NP_001265595.1:n.*984G>T
NM_001278667.1:c.*984G>T (RAB23) NP_001265596.1:n.*984G>T
NM_001278668.1:c.*984G>T (RAB23) NP_001265597.1:n.*984G>T
NM_016277.4:c.*984G>T (RAB23) NP_057361.3:n.*984G>T
NM_183227.2:c.*984G>T (RAB23) NP_899050.1:n.*984G>T
NR_103822.1:n.1557G>T (RAB23)
NM_004282.4:c.*5287C>A (BAG2) MANE Select NP_004273.1:n.*5287C>A
NM_016277.5:c.*984G>T (RAB23) MANE Select NP_057361.3:n.*984G>T
NM_001278666.2:c.*984G>T (RAB23) NP_001265595.1:n.*984G>T
NM_001278667.2:c.*984G>T (RAB23) NP_001265596.1:n.*984G>T
NM_001278668.2:c.*984G>T (RAB23) NP_001265597.1:n.*984G>T
NM_183227.3:c.*984G>T (RAB23) NP_899050.1:n.*984G>T
NR_103822.2:n.1550G>T (RAB23)