Canonical Allele Identifier: CA100204493
Gene: SHROOM3 HGNC NCBI

Linked Data

dbSNP Id: rs10212800
gnomAD v2: 4-77397829-G-T
gnomAD v3: 4-76476676-G-T
gnomAD v4: 4-76476676-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.76476676G>T , CM000666.2:g.76476676G>T GRCh38
NC_000004.11:g.77397829G>T , CM000666.1:g.77397829G>T GRCh37
NC_000004.10:g.77616853G>T NCBI36
NG_028077.1:g.46577G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296043.7:c.168+40456G>T MANE Select ENSP00000296043.6:n.168+40456G>T
ENST00000296043.6:c.168+40456G>T ENSP00000296043.6:n.168+40456G>T
ENST00000466541.1:n.75+40456G>T
ENST00000497440.5:n.109+40456G>T
NM_020859.3:c.168+40456G>T NP_065910.3:n.168+40456G>T
XM_005263162.3:c.168+40456G>T XP_005263219.1:n.168+40456G>T
XM_011532158.1:c.168+40456G>T XP_011530460.1:n.168+40456G>T
XM_011532159.1:c.168+40456G>T XP_011530461.1:n.168+40456G>T
XM_011532158.3:c.168+40456G>T XP_011530460.1:n.168+40456G>T
NM_020859.4:c.168+40456G>T MANE Select NP_065910.3:n.168+40456G>T