Canonical Allele Identifier: CA364398737

Gene: MMUT

Linked Data

• MyVariant Identifiers: chr6:g.49419231C>A (hg19) ; chr6:g.49451518C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49451518C>A , CM000668.2:g.49451518C>A	GRCh38
NC_000006.11:g.49419231C>A , CM000668.1:g.49419231C>A	GRCh37
NC_000006.10:g.49527190C>A	NCBI36
NG_007100.1:g.16622G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000274813.4:c.1280G>T MANE Select	ENSP00000274813.3:p.Gly427Val
ENST00000274813.3:c.1280G>T	ENSP00000274813.3:p.Gly427Val
NM_000255.3:c.1280G>T	NP_000246.2:p.Gly427Val
XM_005249143.2:c.1280G>T	XP_005249200.1:p.Gly427Val
XM_005249143.3:c.1280G>T	XP_005249200.1:p.Gly427Val
NM_000255.4:c.1280G>T MANE Select	NP_000246.2:p.Gly427Val