Canonical Allele Identifier: CA364404573
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 1725478
ClinVar RCV Id: RCV002309162
MyVariant Identifiers: chr6:g.49425646T>A (hg19) chr6:g.49457933T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457933T>A , CM000668.2:g.49457933T>A GRCh38
NC_000006.11:g.49425646T>A , CM000668.1:g.49425646T>A GRCh37
NC_000006.10:g.49533605T>A NCBI36
NG_007100.1:g.10207A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.511A>T MANE Select ENSP00000274813.3:p.Lys171Ter
ENST00000274813.3:c.511A>T ENSP00000274813.3:p.Lys171Ter
NM_000255.3:c.511A>T NP_000246.2:p.Lys171Ter
XM_005249143.2:c.511A>T XP_005249200.1:p.Lys171Ter
XM_005249143.3:c.511A>T XP_005249200.1:p.Lys171Ter
NM_000255.4:c.511A>T MANE Select NP_000246.2:p.Lys171Ter
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