Canonical Allele Identifier: CA312778
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 203855
ClinVar RCV Id: RCV000186056 RCV000666877 RCV001192657 RCV001271714
dbSNP Id: rs200596762
ExAC: 6:49425475 G / A
gnomAD v2: 6-49425475-G-A
gnomAD v3: 6-49457762-G-A
gnomAD v4: 6-49457762-G-A
MyVariant Identifiers: chr6:g.49425475G>A (hg19) chr6:g.49457762G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457762G>A , CM000668.2:g.49457762G>A GRCh38
NC_000006.11:g.49425475G>A , CM000668.1:g.49425475G>A GRCh37
NC_000006.10:g.49533434G>A NCBI36
NG_007100.1:g.10378C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.682C>T MANE Select ENSP00000274813.3:p.Arg228Ter
ENST00000274813.3:c.682C>T ENSP00000274813.3:p.Arg228Ter
NM_000255.3:c.682C>T NP_000246.2:p.Arg228Ter
XM_005249143.2:c.682C>T XP_005249200.1:p.Arg228Ter
XM_005249143.3:c.682C>T XP_005249200.1:p.Arg228Ter
NM_000255.4:c.682C>T MANE Select NP_000246.2:p.Arg228Ter
Search 100 bp 5'
Search 100 bp 3'