Canonical Allele Identifier: CA139201264

Gene: MMUT

Linked Data

• dbSNP Id: rs960855643
• MyVariant Identifiers: chr6:g.49399448G>T (hg19) ; chr6:g.49431735G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49431735G>T , CM000668.2:g.49431735G>T	GRCh38
NC_000006.11:g.49399448G>T , CM000668.1:g.49399448G>T	GRCh37
NC_000006.10:g.49507407G>T	NCBI36
NG_007100.1:g.36405C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.2246C>A MANE Select	ENSP00000274813.3:p.Ser749Tyr
ENST00000274813.3:c.2246C>A	ENSP00000274813.3:p.Ser749Tyr
NM_000255.3:c.2246C>A	NP_000246.2:p.Ser749Tyr
XM_005249143.2:c.2246C>A	XP_005249200.1:p.Ser749Tyr
XM_005249143.3:c.2246C>A	XP_005249200.1:p.Ser749Tyr
NM_000255.4:c.2246C>A MANE Select	NP_000246.2:p.Ser749Tyr