Canonical Allele Identifier: CA10575876
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 222921
ClinVar RCV Id: RCV000236687
dbSNP Id: rs12175488
MyVariant Identifiers: chr6:g.49423876C>G (hg19) chr6:g.49456163C>G (hg38)
PubMed: PMID:25736335 PMID:27167370
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49456163C>G , CM000668.2:g.49456163C>G GRCh38
NC_000006.11:g.49423876C>G , CM000668.1:g.49423876C>G GRCh37
NC_000006.10:g.49531835C>G NCBI36
NG_007100.1:g.11977G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.828G>C MANE Select ENSP00000274813.3:p.Glu276Asp
ENST00000274813.3:c.828G>C ENSP00000274813.3:p.Glu276Asp
NM_000255.3:c.828G>C NP_000246.2:p.Glu276Asp
XM_005249143.2:c.828G>C XP_005249200.1:p.Glu276Asp
XM_005249143.3:c.828G>C XP_005249200.1:p.Glu276Asp
NM_000255.4:c.828G>C MANE Select NP_000246.2:p.Glu276Asp
Search 100 bp 5'
Search 100 bp 3'