Canonical Allele Identifier: CA364404996
Gene: MMUT HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.49426855G>T (hg19) chr6:g.49459142G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459142G>T , CM000668.2:g.49459142G>T GRCh38
NC_000006.11:g.49426855G>T , CM000668.1:g.49426855G>T GRCh37
NC_000006.10:g.49534814G>T NCBI36
NG_007100.1:g.8998C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.325C>A MANE Select ENSP00000274813.3:p.Gln109Lys
ENST00000274813.3:c.325C>A ENSP00000274813.3:p.Gln109Lys
NM_000255.3:c.325C>A NP_000246.2:p.Gln109Lys
XM_005249143.2:c.325C>A XP_005249200.1:p.Gln109Lys
XM_005249143.3:c.325C>A XP_005249200.1:p.Gln109Lys
NM_000255.4:c.325C>A MANE Select NP_000246.2:p.Gln109Lys
Search 100 bp 5'
Search 100 bp 3'