Canonical Allele Identifier: CA364404287
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 466221
ClinVar RCV Id: RCV001320345
dbSNP Id: rs1554160650
MyVariant Identifiers: chr6:g.49425510G>T (hg19) chr6:g.49457797G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457797G>T , CM000668.2:g.49457797G>T GRCh38
NC_000006.11:g.49425510G>T , CM000668.1:g.49425510G>T GRCh37
NC_000006.10:g.49533469G>T NCBI36
NG_007100.1:g.10343C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.647C>A MANE Select ENSP00000274813.3:p.Thr216Asn
ENST00000274813.3:c.647C>A ENSP00000274813.3:p.Thr216Asn
NM_000255.3:c.647C>A NP_000246.2:p.Thr216Asn
XM_005249143.2:c.647C>A XP_005249200.1:p.Thr216Asn
XM_005249143.3:c.647C>A XP_005249200.1:p.Thr216Asn
NM_000255.4:c.647C>A MANE Select NP_000246.2:p.Thr216Asn
Search 100 bp 5'
Search 100 bp 3'