Canonical Allele Identifier: CA344278726
Gene: TMEM183A HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.203015979T>A , CM000663.2:g.203015979T>A GRCh38
NC_000001.10:g.202985107T>A , CM000663.1:g.202985107T>A GRCh37
NC_000001.9:g.201251730T>A NCBI36
NG_053085.1:g.13613T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367242.4:c.547T>A MANE Select ENSP00000356211.3:p.Ser183Thr
ENST00000367242.3:c.547T>A ENSP00000356211.3:p.Ser183Thr
ENST00000468449.5:n.438T>A
ENST00000488097.2:n.140T>A
ENST00000543891.5:n.809T>A
NM_138391.4:c.547T>A NP_612400.3:p.Ser183Thr
XM_005245612.1:c.544T>A XP_005245669.1:p.Ser182Thr
XM_011510157.1:c.457T>A XP_011508459.1:p.Ser153Thr
XR_241106.1:n.621T>A
XR_922000.1:n.621T>A
NM_001322955.1:c.544T>A NP_001309884.1:p.Ser182Thr
NM_001322956.1:c.544T>A NP_001309885.1:p.Ser182Thr
NM_001322957.1:c.547T>A NP_001309886.1:p.Ser183Thr
NM_001322958.1:c.457T>A NP_001309887.1:p.Ser153Thr
NM_001322959.1:c.454T>A NP_001309888.1:p.Ser152Thr
NM_001349859.1:c.250T>A NP_001336788.1:p.Ser84Thr
NM_001349862.1:c.247T>A NP_001336791.1:p.Ser83Thr
NM_138391.5:c.547T>A NP_612400.3:p.Ser183Thr
NR_136530.1:n.646T>A
NR_136531.1:n.643T>A
NR_136532.1:n.646T>A
NR_136533.1:n.646T>A
NR_136534.1:n.643T>A
NR_146285.1:n.824T>A
NR_146286.1:n.827T>A
NR_146287.1:n.827T>A
NR_146288.1:n.646T>A
NR_146289.1:n.581T>A
NM_138391.6:c.547T>A MANE Select NP_612400.3:p.Ser183Thr
NM_001322955.2:c.544T>A NP_001309884.1:p.Ser182Thr
NM_001322956.2:c.544T>A NP_001309885.1:p.Ser182Thr
NM_001322957.2:c.547T>A NP_001309886.1:p.Ser183Thr
NM_001322958.2:c.457T>A NP_001309887.1:p.Ser153Thr
NM_001322959.2:c.454T>A NP_001309888.1:p.Ser152Thr
NR_136530.2:n.639T>A
NR_136531.2:n.636T>A
NR_136532.2:n.639T>A
NR_136533.2:n.639T>A
NR_136534.2:n.636T>A
NR_146285.2:n.817T>A
NR_146286.2:n.820T>A
NR_146287.2:n.820T>A
NR_146288.2:n.639T>A