Canonical Allele Identifier: CA339405006
Gene: SH3D21 HGNC NCBI

Linked Data

ClinVar Variation Id: 2476396
ClinVar RCV Id: RCV004271122
dbSNP Id: rs1388849658
gnomAD v2: 1-36772351-G-A
gnomAD v3: 1-36306750-G-A
gnomAD v4: 1-36306750-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.36306750G>A , CM000663.2:g.36306750G>A GRCh38
NC_000001.10:g.36772351G>A , CM000663.1:g.36772351G>A GRCh37
NC_000001.9:g.36544938G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000453908.8:c.157G>A MANE Select ENSP00000403476.2:p.Val53Met
ENST00000373139.6:c.157G>A ENSP00000362232.2:p.Val53Met
ENST00000453908.6:c.157G>A ENSP00000403476.2:p.Val53Met
NM_001162530.1:c.157G>A NP_001156002.1:p.Val53Met
XM_011542149.1:c.157G>A XP_011540451.1:p.Val53Met
XM_011542150.1:c.157G>A XP_011540452.1:p.Val53Met
XM_011542151.1:c.81+76G>A XP_011540453.1:n.81+76G>A
XM_011542152.1:c.157G>A XP_011540454.1:p.Val53Met
XM_011542153.1:c.157G>A XP_011540455.1:p.Val53Met
XM_011542154.1:c.157G>A XP_011540456.1:p.Val53Met
XM_011542153.2:c.157G>A XP_011540455.1:p.Val53Met
XM_017002340.1:c.157G>A XP_016857829.1:p.Val53Met
XM_017002341.1:c.157G>A XP_016857830.1:p.Val53Met
XM_017002342.2:c.157G>A XP_016857831.1:p.Val53Met
XM_017002343.1:c.157G>A XP_016857832.1:p.Val53Met
XM_017002344.1:c.157G>A XP_016857833.1:p.Val53Met
XM_017002345.1:c.157G>A XP_016857834.1:p.Val53Met
NM_001162530.2:c.157G>A MANE Select NP_001156002.1:p.Val53Met