Canonical Allele Identifier: CA249731

Gene: MMUT

Linked Data

• ClinVar Variation Id: 1886
• ClinVar RCV Id: RCV000001963 ; RCV000186055 ; RCV000203309 ; RCV000587363 ; RCV001271716
• dbSNP Id: rs121918256
• ExAC: 6:49425502 T / A
• gnomAD v2: 6-49425502-T-A
• gnomAD v3: 6-49457789-T-A
• gnomAD v4: 6-49457789-T-A
• MyVariant Identifiers: chr6:g.49425502T>A (hg19) ; chr6:g.49457789T>A (hg38)
• PubMed: PMID:11350191 ; PMID:11528502 ; PMID:15643616 ; PMID:16281286 ; PMID:17113806 ; PMID:20301409

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49457789T>A , CM000668.2:g.49457789T>A	GRCh38
NC_000006.11:g.49425502T>A , CM000668.1:g.49425502T>A	GRCh37
NC_000006.10:g.49533461T>A	NCBI36
NG_007100.1:g.10351A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.655A>T MANE Select	ENSP00000274813.3:p.Asn219Tyr
ENST00000274813.3:c.655A>T	ENSP00000274813.3:p.Asn219Tyr
NM_000255.3:c.655A>T	NP_000246.2:p.Asn219Tyr
XM_005249143.2:c.655A>T	XP_005249200.1:p.Asn219Tyr
XM_005249143.3:c.655A>T	XP_005249200.1:p.Asn219Tyr
NM_000255.4:c.655A>T MANE Select	NP_000246.2:p.Asn219Tyr