Canonical Allele Identifier: CA2679046722

Gene: MMUT

Linked Data

• gnomAD v4: 6-49451784-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49451784A>G , CM000668.2:g.49451784A>G	GRCh38
NC_000006.11:g.49419497A>G , CM000668.1:g.49419497A>G	GRCh37
NC_000006.10:g.49527456A>G	NCBI36
NG_007100.1:g.16356T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.1084-70T>C MANE Select	ENSP00000274813.3:n.1084-70T>C
ENST00000274813.3:c.1084-70T>C	ENSP00000274813.3:n.1084-70T>C
NM_000255.3:c.1084-70T>C	NP_000246.2:n.1084-70T>C
XM_005249143.2:c.1084-70T>C	XP_005249200.1:n.1084-70T>C
XM_005249143.3:c.1084-70T>C	XP_005249200.1:n.1084-70T>C
NM_000255.4:c.1084-70T>C MANE Select	NP_000246.2:n.1084-70T>C