Canonical Allele Identifier: CA100204508
Gene: SHROOM3 HGNC NCBI

Linked Data

dbSNP Id: rs369545416
gnomAD v3: 4-76476889-C-T
gnomAD v4: 4-76476889-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.76476889C>T , CM000666.2:g.76476889C>T GRCh38
NC_000004.11:g.77398042C>T , CM000666.1:g.77398042C>T GRCh37
NC_000004.10:g.77617066C>T NCBI36
NG_028077.1:g.46790C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296043.7:c.168+40669C>T MANE Select ENSP00000296043.6:n.168+40669C>T
ENST00000296043.6:c.168+40669C>T ENSP00000296043.6:n.168+40669C>T
ENST00000466541.1:n.75+40669C>T
ENST00000497440.5:n.109+40669C>T
NM_020859.3:c.168+40669C>T NP_065910.3:n.168+40669C>T
XM_005263162.3:c.168+40669C>T XP_005263219.1:n.168+40669C>T
XM_011532158.1:c.168+40669C>T XP_011530460.1:n.168+40669C>T
XM_011532159.1:c.168+40669C>T XP_011530461.1:n.168+40669C>T
XM_011532158.3:c.168+40669C>T XP_011530460.1:n.168+40669C>T
NM_020859.4:c.168+40669C>T MANE Select NP_065910.3:n.168+40669C>T