Canonical Allele Identifier: CA364404282
Gene: MMUT HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.49425508T>A (hg19) chr6:g.49457795T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457795T>A , CM000668.2:g.49457795T>A GRCh38
NC_000006.11:g.49425508T>A , CM000668.1:g.49425508T>A GRCh37
NC_000006.10:g.49533467T>A NCBI36
NG_007100.1:g.10345A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.649A>T MANE Select ENSP00000274813.3:p.Ile217Phe
ENST00000274813.3:c.649A>T ENSP00000274813.3:p.Ile217Phe
NM_000255.3:c.649A>T NP_000246.2:p.Ile217Phe
XM_005249143.2:c.649A>T XP_005249200.1:p.Ile217Phe
XM_005249143.3:c.649A>T XP_005249200.1:p.Ile217Phe
NM_000255.4:c.649A>T MANE Select NP_000246.2:p.Ile217Phe
Search 100 bp 5'
Search 100 bp 3'