Canonical Allele Identifier: CA2740091362

Gene: MMUT

Linked Data

• ClinVar Variation Id: 2975227
• ClinVar RCV Id: RCV003830833

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49458062A>C , CM000668.2:g.49458062A>C	GRCh38
NC_000006.11:g.49425775A>C , CM000668.1:g.49425775A>C	GRCh37
NC_000006.10:g.49533734A>C	NCBI36
NG_007100.1:g.10078T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.386-4T>G MANE Select	ENSP00000274813.3:n.386-4T>G
ENST00000274813.3:c.386-4T>G	ENSP00000274813.3:n.386-4T>G
NM_000255.3:c.386-4T>G	NP_000246.2:n.386-4T>G
XM_005249143.2:c.386-4T>G	XP_005249200.1:n.386-4T>G
XM_005249143.3:c.386-4T>G	XP_005249200.1:n.386-4T>G
NM_000255.4:c.386-4T>G MANE Select	NP_000246.2:n.386-4T>G