Canonical Allele Identifier: CA2262235944
Gene: ARL17B HGNC NCBI
LRRC37A HGNC NCBI

Linked Data

dbSNP Id: rs2049644961
gnomAD v3: 17-46278184-G-A
gnomAD v4: 17-46278184-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46278184G>A , CM000679.2:g.46278184G>A GRCh38
NC_000017.10:g.44355550G>A , CM000679.1:g.44355550G>A GRCh37
NC_000017.9:g.41711327G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000705759.1:n.377-2766C>T (ARL17B)
ENST00000570618.5:c.*22-2766C>T (ARL17B) ENSP00000459151.1:n.*22-2766C>T
XM_005256918.3:c.*22-2766C>T (ARL17B) XP_005256975.1:n.*22-2766C>T
XM_005257887.3:c.27-21610G>A (LRRC37A) XP_005257944.1:n.27-21610G>A
XM_011524162.1:c.*54-2766C>T (ARL17B) XP_011522464.1:n.*54-2766C>T
XM_011525540.1:c.27-21610G>A (LRRC37A) XP_011523842.1:n.27-21610G>A
NM_001103154.2:c.*22-2766C>T (ARL17B) NP_001096624.1:n.*22-2766C>T
XM_011524162.3:c.*54-2766C>T (ARL17B) XP_011522464.1:n.*54-2766C>T
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