Canonical Allele Identifier: CA3847025
Gene: MMUT HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.49456141C>A
GRCh37 chr6:g.49423854C>A
gnomAD v2:
6:49423854 C / A
gnomAD v3:
6:49456141 C / A
gnomAD v4:
chr6-49456141-C-A
Joint Max Group AF 0.00005282 (AFR)
Genomes Max Group AF 0.00004742 (AFR)
Exomes Max Group AF 0.00002376 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49456141C>A , CM000668.2:g.49456141C>A GRCh38
NC_000006.11:g.49423854C>A , CM000668.1:g.49423854C>A GRCh37
NC_000006.10:g.49531813C>A NCBI36
NG_007100.1:g.11999G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.850G>T MANE Select ENSP00000274813.3:p.Gly284Ter
ENST00000274813.3:c.850G>T ENSP00000274813.3:p.Gly284Ter
NM_000255.3:c.850G>T NP_000246.2:p.Gly284Ter
XM_005249143.2:c.850G>T XP_005249200.1:p.Gly284Ter
XM_005249143.3:c.850G>T XP_005249200.1:p.Gly284Ter
NM_000255.4:c.850G>T MANE Select NP_000246.2:p.Gly284Ter
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