Canonical Allele Identifier: CA364397105

Gene: MMUT

Linked Data

• gnomAD v4: 6-49447684-C-T
• MyVariant Identifiers: chr6:g.49415397C>T (hg19) ; chr6:g.49447684C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49447684C>T , CM000668.2:g.49447684C>T	GRCh38
NC_000006.11:g.49415397C>T , CM000668.1:g.49415397C>T	GRCh37
NC_000006.10:g.49523356C>T	NCBI36
NG_007100.1:g.20456G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.1546G>A MANE Select	ENSP00000274813.3:p.Glu516Lys
ENST00000274813.3:c.1546G>A	ENSP00000274813.3:p.Glu516Lys
NM_000255.3:c.1546G>A	NP_000246.2:p.Glu516Lys
XM_005249143.2:c.1546G>A	XP_005249200.1:p.Glu516Lys
XM_005249143.3:c.1546G>A	XP_005249200.1:p.Glu516Lys
NM_000255.4:c.1546G>A MANE Select	NP_000246.2:p.Glu516Lys