Canonical Allele Identifier: CA3846873

Gene: MMUT

Linked Data

• ClinVar Variation Id: 1416035
• ClinVar RCV Id: RCV001933380
• dbSNP Id: rs772705749
• ExAC: 6:49415496 A / G
• gnomAD v2: 6-49415496-A-G
• gnomAD v3: 6-49447783-A-G
• gnomAD v4: 6-49447783-A-G
• MyVariant Identifiers: chr6:g.49415496A>G (hg19) ; chr6:g.49447783A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49447783A>G , CM000668.2:g.49447783A>G	GRCh38
NC_000006.11:g.49415496A>G , CM000668.1:g.49415496A>G	GRCh37
NC_000006.10:g.49523455A>G	NCBI36
NG_007100.1:g.20357T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.1447T>C MANE Select	ENSP00000274813.3:p.Ser483Pro
ENST00000274813.3:c.1447T>C	ENSP00000274813.3:p.Ser483Pro
NM_000255.3:c.1447T>C	NP_000246.2:p.Ser483Pro
XM_005249143.2:c.1447T>C	XP_005249200.1:p.Ser483Pro
XM_005249143.3:c.1447T>C	XP_005249200.1:p.Ser483Pro
NM_000255.4:c.1447T>C MANE Select	NP_000246.2:p.Ser483Pro