Canonical Allele Identifier: CA220547

Gene: MMUT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49447787T>C , CM000668.2:g.49447787T>C	GRCh38
NC_000006.11:g.49415500T>C , CM000668.1:g.49415500T>C	GRCh37
NC_000006.10:g.49523459T>C	NCBI36
NG_007100.1:g.20353A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000255.4:c.1445-2A>G MANE Select	NP_000246.2:n.1445-2A>G
ENST00000274813.4:c.1445-2A>G MANE Select	ENSP00000274813.3:n.1445-2A>G
NM_000255.3:c.1445-2A>G	NP_000246.2:n.1445-2A>G
ENST00000274813.3:c.1445-2A>G	ENSP00000274813.3:n.1445-2A>G
XM_005249143.2:c.1445-2A>G	XP_005249200.1:n.1445-2A>G
XM_005249143.3:c.1445-2A>G	XP_005249200.1:n.1445-2A>G