Canonical Allele Identifier: CA364405894
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs1162806734
gnomAD v2: 6-49427122-T-C
MyVariant Identifiers: chr6:g.49427122T>C (hg19) chr6:g.49459409T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459409T>C , CM000668.2:g.49459409T>C GRCh38
NC_000006.11:g.49427122T>C , CM000668.1:g.49427122T>C GRCh37
NC_000006.10:g.49535081T>C NCBI36
NG_007100.1:g.8731A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.58A>G MANE Select ENSP00000274813.3:p.Lys20Glu
ENST00000274813.3:c.58A>G ENSP00000274813.3:p.Lys20Glu
NM_000255.3:c.58A>G NP_000246.2:p.Lys20Glu
XM_005249143.2:c.58A>G XP_005249200.1:p.Lys20Glu
XM_005249143.3:c.58A>G XP_005249200.1:p.Lys20Glu
NM_000255.4:c.58A>G MANE Select NP_000246.2:p.Lys20Glu
Search 100 bp 5'
Search 100 bp 3'