Canonical Allele Identifier: CA3847079
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs765584462
ExAC: 6:49425520 G / C
gnomAD v2: 6-49425520-G-C
gnomAD v4: 6-49457807-G-C
MyVariant Identifiers: chr6:g.49425520G>C (hg19) chr6:g.49457807G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457807G>C , CM000668.2:g.49457807G>C GRCh38
NC_000006.11:g.49425520G>C , CM000668.1:g.49425520G>C GRCh37
NC_000006.10:g.49533479G>C NCBI36
NG_007100.1:g.10333C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.637C>G MANE Select ENSP00000274813.3:p.Leu213Val
ENST00000274813.3:c.637C>G ENSP00000274813.3:p.Leu213Val
NM_000255.3:c.637C>G NP_000246.2:p.Leu213Val
XM_005249143.2:c.637C>G XP_005249200.1:p.Leu213Val
XM_005249143.3:c.637C>G XP_005249200.1:p.Leu213Val
NM_000255.4:c.637C>G MANE Select NP_000246.2:p.Leu213Val
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