Canonical Allele Identifier: CA450609673
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 1625953
ClinVar RCV Id: RCV002110411
dbSNP Id: rs1341884213
MyVariant Identifiers: chr6:g.49426964C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459251C>T , CM000668.2:g.49459251C>T GRCh38
NC_000006.11:g.49426964C>T , CM000668.1:g.49426964C>T GRCh37
NC_000006.10:g.49534923C>T NCBI36
NG_007100.1:g.8889G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.216G>A MANE Select ENSP00000274813.3:p.Leu72=
ENST00000274813.3:c.216G>A ENSP00000274813.3:p.Leu72=
NM_000255.3:c.216G>A NP_000246.2:p.Leu72=
XM_005249143.2:c.216G>A XP_005249200.1:p.Leu72=
XM_005249143.3:c.216G>A XP_005249200.1:p.Leu72=
NM_000255.4:c.216G>A MANE Select NP_000246.2:p.Leu72=
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