Canonical Allele Identifier: CA3846717

Gene: MMUT

Linked Data

• ClinVar Variation Id: 426995
• ClinVar RCV Id: RCV000489642 ; RCV000666698 ; RCV001844176
• dbSNP Id: rs143023066
• ExAC: 6:49407986 C / T
• gnomAD v2: 6-49407986-C-T
• gnomAD v3: 6-49440273-C-T
• gnomAD v4: 6-49440273-C-T
• MyVariant Identifiers: chr6:g.49407986C>T (hg19) ; chr6:g.49440273C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49440273C>T , CM000668.2:g.49440273C>T	GRCh38
NC_000006.11:g.49407986C>T , CM000668.1:g.49407986C>T	GRCh37
NC_000006.10:g.49515945C>T	NCBI36
NG_007100.1:g.27867G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.1889G>A MANE Select	ENSP00000274813.3:p.Gly630Glu
ENST00000274813.3:c.1889G>A	ENSP00000274813.3:p.Gly630Glu
NM_000255.3:c.1889G>A	NP_000246.2:p.Gly630Glu
XM_005249143.2:c.1889G>A	XP_005249200.1:p.Gly630Glu
XM_005249143.3:c.1889G>A	XP_005249200.1:p.Gly630Glu
NM_000255.4:c.1889G>A MANE Select	NP_000246.2:p.Gly630Glu