Canonical Allele Identifier: CA1064329954
Gene: SHROOM3 HGNC NCBI

Linked Data

dbSNP Id: rs577022686
gnomAD v3: 4-76491025-G-C
gnomAD v4: 4-76491025-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.76491025G>C , CM000666.2:g.76491025G>C GRCh38
NC_000004.11:g.77412178G>C , CM000666.1:g.77412178G>C GRCh37
NC_000004.10:g.77631202G>C NCBI36
NG_028077.1:g.60926G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296043.7:c.168+54805G>C MANE Select ENSP00000296043.6:n.168+54805G>C
ENST00000296043.6:c.168+54805G>C ENSP00000296043.6:n.168+54805G>C
ENST00000466541.1:n.75+54805G>C
ENST00000497440.5:n.109+54805G>C
NM_020859.3:c.168+54805G>C NP_065910.3:n.168+54805G>C
XM_005263162.3:c.168+54805G>C XP_005263219.1:n.168+54805G>C
XM_011532158.1:c.168+54805G>C XP_011530460.1:n.168+54805G>C
XM_011532159.1:c.168+54805G>C XP_011530461.1:n.168+54805G>C
XM_011532158.3:c.168+54805G>C XP_011530460.1:n.168+54805G>C
NM_020859.4:c.168+54805G>C MANE Select NP_065910.3:n.168+54805G>C