Canonical Allele Identifier: CA11951019
Gene: HMMR HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.163478574G>T
GRCh37 chr5:g.162905580G>T
gnomAD v2:
5:162905580 G / T
gnomAD v3:
5:163478574 G / T
gnomAD v4:
chr5-163478574-G-T
Joint Max Group AF 0.39009478 (SAS)
Genomes Max Group AF 0.36605032 (SAS)
Exomes Max Group AF 0.39109157 (SAS)
dbSNP:
13183712
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.163478574G>T , CM000667.2:g.163478574G>T GRCh38
NC_000005.9:g.162905580G>T , CM000667.1:g.162905580G>T GRCh37
NC_000005.8:g.162838158G>T NCBI36
NG_023309.1:g.23064G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393915.9:c.1269-110G>T MANE Select ENSP00000377492.4:n.1269-110G>T
ENST00000353866.7:c.1221-110G>T ENSP00000185942.6:n.1221-110G>T
ENST00000358715.3:c.1266-110G>T ENSP00000351554.3:n.1266-110G>T
ENST00000393915.8:c.1269-110G>T ENSP00000377492.4:n.1269-110G>T
ENST00000432118.6:c.1008-110G>T ENSP00000402673.2:n.1008-110G>T
NM_001142556.1:c.1269-110G>T NP_001136028.1:n.1269-110G>T
NM_001142557.1:c.1008-110G>T NP_001136029.1:n.1008-110G>T
NM_012484.2:c.1266-110G>T NP_036616.2:n.1266-110G>T
NM_012485.2:c.1221-110G>T NP_036617.2:n.1221-110G>T
NM_001142556.2:c.1269-110G>T MANE Select NP_001136028.1:n.1269-110G>T
NM_001142557.2:c.1008-110G>T NP_001136029.1:n.1008-110G>T
NM_012484.3:c.1266-110G>T NP_036616.2:n.1266-110G>T
NM_012485.3:c.1221-110G>T NP_036617.2:n.1221-110G>T
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