Canonical Allele Identifier: CA347873

Gene: MMUT

Linked Data

• ClinVar Variation Id: 218990
• ClinVar RCV Id: RCV000203344 ; RCV000723412 ; RCV000588430 ; RCV001271706
• dbSNP Id: rs753288303
• ExAC: 6:49419231 C / T
• gnomAD v2: 6-49419231-C-T
• gnomAD v3: 6-49451518-C-T
• gnomAD v4: 6-49451518-C-T
• MyVariant Identifiers: chr6:g.49419231C>T (hg19) ; chr6:g.49451518C>T (hg38)
• PubMed: PMID:20301409 ; PMID:23891399 ; PMID:25299208 ; PMID:25750861

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49451518C>T , CM000668.2:g.49451518C>T	GRCh38
NC_000006.11:g.49419231C>T , CM000668.1:g.49419231C>T	GRCh37
NC_000006.10:g.49527190C>T	NCBI36
NG_007100.1:g.16622G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.1280G>A MANE Select	ENSP00000274813.3:p.Gly427Asp
ENST00000274813.3:c.1280G>A	ENSP00000274813.3:p.Gly427Asp
NM_000255.3:c.1280G>A	NP_000246.2:p.Gly427Asp
XM_005249143.2:c.1280G>A	XP_005249200.1:p.Gly427Asp
XM_005249143.3:c.1280G>A	XP_005249200.1:p.Gly427Asp
NM_000255.4:c.1280G>A MANE Select	NP_000246.2:p.Gly427Asp