Canonical Allele Identifier: CA312765
Gene: MMUT HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.49451690T>G
GRCh37 chr6:g.49419403T>G
Revel Score:
ENST00000274813 (MANE Select) 0.991
gnomAD v2:
6:49419403 T / G
gnomAD v3:
6:49451690 T / G
gnomAD v4:
chr6-49451690-T-G
Joint Max Group AF 0.00000443 (AFR)
Genomes Max Group AF 0.000008 (AFR)
ClinVar RCV:
RCV000186047
ClinVar Variation:
203847
dbSNP:
368790885
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49451690T>G , CM000668.2:g.49451690T>G GRCh38
NC_000006.11:g.49419403T>G , CM000668.1:g.49419403T>G GRCh37
NC_000006.10:g.49527362T>G NCBI36
NG_007100.1:g.16450A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1108A>C MANE Select ENSP00000274813.3:p.Thr370Pro
ENST00000274813.3:c.1108A>C ENSP00000274813.3:p.Thr370Pro
NM_000255.3:c.1108A>C NP_000246.2:p.Thr370Pro
XM_005249143.2:c.1108A>C XP_005249200.1:p.Thr370Pro
XM_005249143.3:c.1108A>C XP_005249200.1:p.Thr370Pro
NM_000255.4:c.1108A>C MANE Select NP_000246.2:p.Thr370Pro
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