Canonical Allele Identifier: CA3545812
Gene: HMMR HGNC NCBI
COSMIC:
COSM150009 (not active)
MyVariant.info:
GRCh38 chr5:g.163475510T>C
GRCh37 chr5:g.162902516T>C
Revel Score:
ENST00000416990 0.065
ENST00000353866 0.065
ENST00000393915 (MANE Select) 0.065
ENST00000426586 0.065
ENST00000432118 0.065
ENST00000358715 0.065
gnomAD v2:
5:162902516 T / C
gnomAD v3:
5:163475510 T / C
gnomAD v4:
chr5-163475510-T-C
Joint Max Group AF 0.49825062 (EAS)
Genomes Max Group AF 0.48083849 (EAS)
Exomes Max Group AF 0.49879403 (EAS)
dbSNP:
299290
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.163475510T>C , CM000667.2:g.163475510T>C GRCh38
NC_000005.9:g.162902516T>C , CM000667.1:g.162902516T>C GRCh37
NC_000005.8:g.162835094T>C NCBI36
NG_023309.1:g.20000T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393915.9:c.1106T>C MANE Select ENSP00000377492.4:p.Val369Ala
ENST00000353866.7:c.1058T>C ENSP00000185942.6:p.Val353Ala
ENST00000358715.3:c.1103T>C ENSP00000351554.3:p.Val368Ala
ENST00000393915.8:c.1106T>C ENSP00000377492.4:p.Val369Ala
ENST00000432118.6:c.845T>C ENSP00000402673.2:p.Val282Ala
NM_001142556.1:c.1106T>C NP_001136028.1:p.Val369Ala
NM_001142557.1:c.845T>C NP_001136029.1:p.Val282Ala
NM_012484.2:c.1103T>C NP_036616.2:p.Val368Ala
NM_012485.2:c.1058T>C NP_036617.2:p.Val353Ala
NM_001142556.2:c.1106T>C MANE Select NP_001136028.1:p.Val369Ala
NM_001142557.2:c.845T>C NP_001136029.1:p.Val282Ala
NM_012484.3:c.1103T>C NP_036616.2:p.Val368Ala
NM_012485.3:c.1058T>C NP_036617.2:p.Val353Ala
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