Canonical Allele Identifier: CA364404576
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 2177415
ClinVar RCV Id: RCV002585533
MyVariant Identifiers: chr6:g.49425648G>A (hg19) chr6:g.49457935G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457935G>A , CM000668.2:g.49457935G>A GRCh38
NC_000006.11:g.49425648G>A , CM000668.1:g.49425648G>A GRCh37
NC_000006.10:g.49533607G>A NCBI36
NG_007100.1:g.10205C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.509C>T MANE Select ENSP00000274813.3:p.Thr170Ile
ENST00000274813.3:c.509C>T ENSP00000274813.3:p.Thr170Ile
NM_000255.3:c.509C>T NP_000246.2:p.Thr170Ile
XM_005249143.2:c.509C>T XP_005249200.1:p.Thr170Ile
XM_005249143.3:c.509C>T XP_005249200.1:p.Thr170Ile
NM_000255.4:c.509C>T MANE Select NP_000246.2:p.Thr170Ile
Search 100 bp 5'
Search 100 bp 3'