Canonical Allele Identifier: CA450606509

Gene: MMUT

Linked Data

• ClinVar Variation Id: 2693551
• ClinVar RCV Id: RCV003543578
• MyVariant Identifiers: chr6:g.49419314C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49451601C>A , CM000668.2:g.49451601C>A	GRCh38
NC_000006.11:g.49419314C>A , CM000668.1:g.49419314C>A	GRCh37
NC_000006.10:g.49527273C>A	NCBI36
NG_007100.1:g.16539G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000274813.4:c.1197G>T MANE Select	ENSP00000274813.3:p.Val399=
ENST00000274813.3:c.1197G>T	ENSP00000274813.3:p.Val399=
NM_000255.3:c.1197G>T	NP_000246.2:p.Val399=
XM_005249143.2:c.1197G>T	XP_005249200.1:p.Val399=
XM_005249143.3:c.1197G>T	XP_005249200.1:p.Val399=
NM_000255.4:c.1197G>T MANE Select	NP_000246.2:p.Val399=