Canonical Allele Identifier: CA540808306
Gene: ARL8B HGNC NCBI

Linked Data

dbSNP Id: rs1459907666
gnomAD v2: 3-5188156-T-C
gnomAD v3: 3-5146471-T-C
gnomAD v4: 3-5146471-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.5146471T>C , CM000665.2:g.5146471T>C GRCh38
NC_000003.11:g.5188156T>C , CM000665.1:g.5188156T>C GRCh37
NC_000003.10:g.5163156T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000256496.8:c.123+23883T>C MANE Select ENSP00000256496.3:n.123+23883T>C
ENST00000256496.7:c.123+23883T>C ENSP00000256496.3:n.123+23883T>C
ENST00000419534.2:c.123+23883T>C ENSP00000402996.2:n.123+23883T>C
ENST00000429403.5:c.*111+17887T>C ENSP00000405196.1:n.*111+17887T>C
ENST00000444332.1:n.297+23883T>C
ENST00000455168.5:c.295+23883T>C ENSP00000400831.1:n.295+23883T>C
ENST00000611208.4:c.123+23883T>C ENSP00000479202.1:n.123+23883T>C
NM_018184.2:c.123+23883T>C NP_060654.1:n.123+23883T>C
XM_005265295.3:c.123+23883T>C XP_005265352.1:n.123+23883T>C
NM_018184.3:c.123+23883T>C MANE Select NP_060654.1:n.123+23883T>C