Canonical Allele Identifier: CA114968
Gene: TMEM67 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 1377
dbSNP Id: rs111619594

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.93780962A>T , CM000670.2:g.93780962A>T GRCh38
NC_000008.9:g.94862366A>T NCBI36
NC_000008.10:g.94793190A>T , CM000670.1:g.94793190A>T GRCh37
NG_009190.1:g.31119A>T , LRG_688:g.31119A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000323130.7:c.928A>T ENSP00000314488.3:p.Ser310Cys
ENST00000409623.7:c.715A>T ENSP00000386966.3:p.Ser239Cys
ENST00000425545.2:n.405A>T
ENST00000452276.5:c.649A>T ENSP00000388671.1:p.Ser217Cys
ENST00000453321.7:c.958A>T ENSP00000389998.3:p.Ser320Cys
ENST00000453906.5:c.407-5261A>T ENSP00000403035.1:p.=
ENST00000474944.5:n.427-5261A>T
ENST00000496213.5:n.423A>T
NM_001142301.1:c.715A>T , LRG_688t2:c.715A>T NP_001135773.1:p.Ser239Cys
NM_153704.5:c.958A>T , LRG_688t1:c.958A>T NP_714915.3:p.Ser320Cys
NR_024522.1:n.1029A>T
XM_006716686.2:c.655A>T XP_006716749.1:p.Ser219Cys
XM_006716687.2:c.358A>T XP_006716750.1:p.Ser120Cys
XM_011517363.1:c.407-5261A>T XP_011515665.1:p.=
XR_428387.1:n.1016A>T
XR_928360.1:n.1016A>T
XR_928361.1:n.1016A>T
XR_928362.1:n.1016A>T
XM_006716686.4:c.655A>T
XM_011517363.3:c.407-5261A>T
XM_024447326.1:c.304A>T XP_024303094.1:p.Ser102Cys
XR_001745619.2:n.999A>T
XR_428387.2:n.999A>T
XR_928360.3:n.999A>T
XR_928362.3:n.999A>T