Canonical Allele Identifier: CA1692608120
Gene: TMEM196 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19765857C>A , CM000669.2:g.19765857C>A GRCh38
NC_000007.13:g.19805480C>A , CM000669.1:g.19805480C>A GRCh37
NC_000007.12:g.19772005C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000405844.6:c.147+6693G>T MANE Select ENSP00000385087.2:n.147+6693G>T
ENST00000405764.7:c.147+6693G>T ENSP00000384234.3:n.147+6693G>T
ENST00000405844.5:c.147+6693G>T ENSP00000385087.1:n.147+6693G>T
ENST00000422233.5:c.-58+7710G>T ENSP00000414247.1:n.-58+7710G>T
ENST00000433641.5:c.-58+7710G>T ENSP00000406460.1:n.-58+7710G>T
ENST00000493519.2:c.-58+7245G>T ENSP00000438368.1:n.-58+7245G>T
NM_152774.3:c.147+6693G>T NP_689987.3:n.147+6693G>T
XM_005249692.3:c.165+6675G>T XP_005249749.2:n.165+6675G>T
XM_011515249.1:c.147+6693G>T XP_011513551.1:n.147+6693G>T
XM_011515250.1:c.165+6675G>T XP_011513552.1:n.165+6675G>T
XM_011515251.1:c.12+6679G>T XP_011513553.1:n.12+6679G>T
NM_001363562.1:c.147+6693G>T NP_001350491.1:n.147+6693G>T
NM_001366625.1:c.165+6675G>T NP_001353554.1:n.165+6675G>T
NM_001366626.1:c.165+6675G>T NP_001353555.1:n.165+6675G>T
NM_001366627.1:c.-58+7710G>T NP_001353556.1:n.-58+7710G>T
NM_001366628.1:c.-58+7710G>T NP_001353557.1:n.-58+7710G>T
XM_017011928.2:c.165+6675G>T XP_016867417.1:n.165+6675G>T
XM_017011929.2:c.147+6693G>T XP_016867418.1:n.147+6693G>T
XR_001745112.1:n.991+42715C>A
NM_001363562.2:c.147+6693G>T MANE Select NP_001350491.1:n.147+6693G>T