Canonical Allele Identifier: CA138795784

Gene: MMUT

Linked Data

• ClinVar Variation Id: 992066
• ClinVar RCV Id: RCV001280382 ; RCV001871607
• dbSNP Id: rs766908649
• gnomAD v4: 6-49447731-A-G
• MyVariant Identifiers: chr6:g.49415444A>G (hg19) ; chr6:g.49447731A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49447731A>G , CM000668.2:g.49447731A>G	GRCh38
NC_000006.11:g.49415444A>G , CM000668.1:g.49415444A>G	GRCh37
NC_000006.10:g.49523403A>G	NCBI36
NG_007100.1:g.20409T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.1499T>C MANE Select	ENSP00000274813.3:p.Val500Ala
ENST00000274813.3:c.1499T>C	ENSP00000274813.3:p.Val500Ala
NM_000255.3:c.1499T>C	NP_000246.2:p.Val500Ala
XM_005249143.2:c.1499T>C	XP_005249200.1:p.Val500Ala
XM_005249143.3:c.1499T>C	XP_005249200.1:p.Val500Ala
NM_000255.4:c.1499T>C MANE Select	NP_000246.2:p.Val500Ala