Canonical Allele Identifier: CA364397097

Gene: MMUT

Linked Data

• MyVariant Identifiers: chr6:g.49415394T>G (hg19) ; chr6:g.49447681T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49447681T>G , CM000668.2:g.49447681T>G	GRCh38
NC_000006.11:g.49415394T>G , CM000668.1:g.49415394T>G	GRCh37
NC_000006.10:g.49523353T>G	NCBI36
NG_007100.1:g.20459A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.1549A>C MANE Select	ENSP00000274813.3:p.Lys517Gln
ENST00000274813.3:c.1549A>C	ENSP00000274813.3:p.Lys517Gln
NM_000255.3:c.1549A>C	NP_000246.2:p.Lys517Gln
XM_005249143.2:c.1549A>C	XP_005249200.1:p.Lys517Gln
XM_005249143.3:c.1549A>C	XP_005249200.1:p.Lys517Gln
NM_000255.4:c.1549A>C MANE Select	NP_000246.2:p.Lys517Gln