Canonical Allele Identifier: CA364397294
Gene: MMUT HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.49415487T>C (hg19) chr6:g.49447774T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49447774T>C , CM000668.2:g.49447774T>C GRCh38
NC_000006.11:g.49415487T>C , CM000668.1:g.49415487T>C GRCh37
NC_000006.10:g.49523446T>C NCBI36
NG_007100.1:g.20366A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1456A>G MANE Select ENSP00000274813.3:p.Ile486Val
ENST00000274813.3:c.1456A>G ENSP00000274813.3:p.Ile486Val
NM_000255.3:c.1456A>G NP_000246.2:p.Ile486Val
XM_005249143.2:c.1456A>G XP_005249200.1:p.Ile486Val
XM_005249143.3:c.1456A>G XP_005249200.1:p.Ile486Val
NM_000255.4:c.1456A>G MANE Select NP_000246.2:p.Ile486Val
Search 100 bp 5'
Search 100 bp 3'