Canonical Allele Identifier: CA3913289
Gene: HTR1E HGNC NCBI
COSMIC:
COSM271307
MyVariant.info:
GRCh38 chr6:g.87015956G>A
GRCh37 chr6:g.87725674G>A
Revel Score:
ENST00000305344 (MANE Select) 0.325
ENST00000369584 0.325
gnomAD v2:
6:87725674 G / A
gnomAD v3:
6:87015956 G / A
gnomAD v4:
chr6-87015956-G-A
Joint Max Group AF 0.00960511 (EAS)
Genomes Max Group AF 0.00701377 (EAS)
Exomes Max Group AF 0.00972049 (EAS)
dbSNP:
3828741
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.87015956G>A , CM000668.2:g.87015956G>A GRCh38
NC_000006.11:g.87725674G>A , CM000668.1:g.87725674G>A GRCh37
NC_000006.10:g.87782393G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000305344.7:c.622G>A MANE Select ENSP00000307766.4:p.Ala208Thr
ENST00000305344.6:c.622G>A ENSP00000307766.4:p.Ala208Thr
NM_000865.2:c.622G>A NP_000856.1:p.Ala208Thr
XM_011535789.1:c.622G>A XP_011534091.1:p.Ala208Thr
XM_011535790.1:c.622G>A XP_011534092.1:p.Ala208Thr
XM_011535789.2:c.622G>A XP_011534091.1:p.Ala208Thr
NM_000865.3:c.622G>A MANE Select NP_000856.1:p.Ala208Thr
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