Canonical Allele Identifier: CA364405903
Gene: MMUT HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.49427125C>T (hg19) chr6:g.49459412C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459412C>T , CM000668.2:g.49459412C>T GRCh38
NC_000006.11:g.49427125C>T , CM000668.1:g.49427125C>T GRCh37
NC_000006.10:g.49535084C>T NCBI36
NG_007100.1:g.8728G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.55G>A MANE Select ENSP00000274813.3:p.Val19Ile
ENST00000274813.3:c.55G>A ENSP00000274813.3:p.Val19Ile
NM_000255.3:c.55G>A NP_000246.2:p.Val19Ile
XM_005249143.2:c.55G>A XP_005249200.1:p.Val19Ile
XM_005249143.3:c.55G>A XP_005249200.1:p.Val19Ile
NM_000255.4:c.55G>A MANE Select NP_000246.2:p.Val19Ile
Search 100 bp 5'
Search 100 bp 3'