Canonical Allele Identifier: CA3846861
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 971894
ClinVar RCV Id: RCV002564126
dbSNP Id: rs759605451
ExAC: 6:49415442 C / G
gnomAD v2: 6-49415442-C-G
gnomAD v3: 6-49447729-C-G
gnomAD v4: 6-49447729-C-G
MyVariant Identifiers: chr6:g.49415442C>G (hg19) chr6:g.49447729C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49447729C>G , CM000668.2:g.49447729C>G GRCh38
NC_000006.11:g.49415442C>G , CM000668.1:g.49415442C>G GRCh37
NC_000006.10:g.49523401C>G NCBI36
NG_007100.1:g.20411G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1501G>C MANE Select ENSP00000274813.3:p.Glu501Gln
ENST00000274813.3:c.1501G>C ENSP00000274813.3:p.Glu501Gln
NM_000255.3:c.1501G>C NP_000246.2:p.Glu501Gln
XM_005249143.2:c.1501G>C XP_005249200.1:p.Glu501Gln
XM_005249143.3:c.1501G>C XP_005249200.1:p.Glu501Gln
NM_000255.4:c.1501G>C MANE Select NP_000246.2:p.Glu501Gln
Search 100 bp 5'
Search 100 bp 3'