Canonical Allele Identifier: CA312763

Gene: MMUT

Linked Data

• ClinVar Variation Id: 203845
• ClinVar RCV Id: RCV000642162 ; RCV000732448 ; RCV002509286 ; RCV001833111
• dbSNP Id: rs777031588
• ExAC: 6:49419437 T / C
• gnomAD v2: 6-49419437-T-C
• gnomAD v3: 6-49451724-T-C
• gnomAD v4: 6-49451724-T-C
• MyVariant Identifiers: chr6:g.49419437T>C (hg19) ; chr6:g.49451724T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49451724T>C , CM000668.2:g.49451724T>C	GRCh38
NC_000006.11:g.49419437T>C , CM000668.1:g.49419437T>C	GRCh37
NC_000006.10:g.49527396T>C	NCBI36
NG_007100.1:g.16416A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.1084-10A>G MANE Select	ENSP00000274813.3:n.1084-10A>G
ENST00000274813.3:c.1084-10A>G	ENSP00000274813.3:n.1084-10A>G
NM_000255.3:c.1084-10A>G	NP_000246.2:n.1084-10A>G
XM_005249143.2:c.1084-10A>G	XP_005249200.1:n.1084-10A>G
XM_005249143.3:c.1084-10A>G	XP_005249200.1:n.1084-10A>G
NM_000255.4:c.1084-10A>G MANE Select	NP_000246.2:n.1084-10A>G