Canonical Allele Identifier: CA100204506
Gene: SHROOM3 HGNC NCBI

Linked Data

dbSNP Id: rs750460232
gnomAD v3: 4-76476887-T-G
gnomAD v4: 4-76476887-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.76476887T>G , CM000666.2:g.76476887T>G GRCh38
NC_000004.11:g.77398040T>G , CM000666.1:g.77398040T>G GRCh37
NC_000004.10:g.77617064T>G NCBI36
NG_028077.1:g.46788T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296043.7:c.168+40667T>G MANE Select ENSP00000296043.6:n.168+40667T>G
ENST00000296043.6:c.168+40667T>G ENSP00000296043.6:n.168+40667T>G
ENST00000466541.1:n.75+40667T>G
ENST00000497440.5:n.109+40667T>G
NM_020859.3:c.168+40667T>G NP_065910.3:n.168+40667T>G
XM_005263162.3:c.168+40667T>G XP_005263219.1:n.168+40667T>G
XM_011532158.1:c.168+40667T>G XP_011530460.1:n.168+40667T>G
XM_011532159.1:c.168+40667T>G XP_011530461.1:n.168+40667T>G
XM_011532158.3:c.168+40667T>G XP_011530460.1:n.168+40667T>G
NM_020859.4:c.168+40667T>G MANE Select NP_065910.3:n.168+40667T>G