Canonical Allele Identifier: CA3913309
Gene: HTR1E HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.87016119C>T
GRCh37 chr6:g.87725837C>T
Revel Score:
ENST00000305344 (MANE Select) 0.138
ENST00000369584 0.138
gnomAD v2:
6:87725837 C / T
gnomAD v3:
6:87016119 C / T
gnomAD v4:
chr6-87016119-C-T
Joint Max Group AF 0.00196354 (NFE)
Genomes Max Group AF 0.00146686 (NFE)
Exomes Max Group AF 0.00197996 (NFE)
dbSNP:
6303
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.87016119C>T , CM000668.2:g.87016119C>T GRCh38
NC_000006.11:g.87725837C>T , CM000668.1:g.87725837C>T GRCh37
NC_000006.10:g.87782556C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000305344.7:c.785C>T MANE Select ENSP00000307766.4:p.Ser262Phe
ENST00000305344.6:c.785C>T ENSP00000307766.4:p.Ser262Phe
NM_000865.2:c.785C>T NP_000856.1:p.Ser262Phe
XM_011535789.1:c.785C>T XP_011534091.1:p.Ser262Phe
XM_011535790.1:c.785C>T XP_011534092.1:p.Ser262Phe
XM_011535789.2:c.785C>T XP_011534091.1:p.Ser262Phe
NM_000865.3:c.785C>T MANE Select NP_000856.1:p.Ser262Phe
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