Canonical Allele Identifier: CA3847152
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs762507663
ExAC: 6:49426927 G / A
gnomAD v2: 6-49426927-G-A
gnomAD v3: 6-49459214-G-A
gnomAD v4: 6-49459214-G-A
MyVariant Identifiers: chr6:g.49426927G>A (hg19) chr6:g.49459214G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459214G>A , CM000668.2:g.49459214G>A GRCh38
NC_000006.11:g.49426927G>A , CM000668.1:g.49426927G>A GRCh37
NC_000006.10:g.49534886G>A NCBI36
NG_007100.1:g.8926C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.253C>T MANE Select ENSP00000274813.3:p.Leu85Phe
ENST00000274813.3:c.253C>T ENSP00000274813.3:p.Leu85Phe
NM_000255.3:c.253C>T NP_000246.2:p.Leu85Phe
XM_005249143.2:c.253C>T XP_005249200.1:p.Leu85Phe
XM_005249143.3:c.253C>T XP_005249200.1:p.Leu85Phe
NM_000255.4:c.253C>T MANE Select NP_000246.2:p.Leu85Phe
Search 100 bp 5'
Search 100 bp 3'