Canonical Allele Identifier: CA364404485

Gene: MMUT

Linked Data

• MyVariant Identifiers: chr6:g.49425607C>G (hg19) ; chr6:g.49457894C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49457894C>G , CM000668.2:g.49457894C>G	GRCh38
NC_000006.11:g.49425607C>G , CM000668.1:g.49425607C>G	GRCh37
NC_000006.10:g.49533566C>G	NCBI36
NG_007100.1:g.10246G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.550G>C MANE Select	ENSP00000274813.3:p.Val184Leu
ENST00000274813.3:c.550G>C	ENSP00000274813.3:p.Val184Leu
NM_000255.3:c.550G>C	NP_000246.2:p.Val184Leu
XM_005249143.2:c.550G>C	XP_005249200.1:p.Val184Leu
XM_005249143.3:c.550G>C	XP_005249200.1:p.Val184Leu
NM_000255.4:c.550G>C MANE Select	NP_000246.2:p.Val184Leu