Canonical Allele Identifier: CA138801154
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs756504816
gnomAD v4: 6-49459289-T-G
MyVariant Identifiers: chr6:g.49427002T>G (hg19) chr6:g.49459289T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459289T>G , CM000668.2:g.49459289T>G GRCh38
NC_000006.11:g.49427002T>G , CM000668.1:g.49427002T>G GRCh37
NC_000006.10:g.49534961T>G NCBI36
NG_007100.1:g.8851A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.178A>C MANE Select ENSP00000274813.3:p.Ile60Leu
ENST00000274813.3:c.178A>C ENSP00000274813.3:p.Ile60Leu
NM_000255.3:c.178A>C NP_000246.2:p.Ile60Leu
XM_005249143.2:c.178A>C XP_005249200.1:p.Ile60Leu
XM_005249143.3:c.178A>C XP_005249200.1:p.Ile60Leu
NM_000255.4:c.178A>C MANE Select NP_000246.2:p.Ile60Leu
Search 100 bp 5'
Search 100 bp 3'