Canonical Allele Identifier: CA249725

Gene: MMUT

Linked Data

• ClinVar Variation Id: 1877
• ClinVar RCV Id: RCV000001954 ; RCV000203362 ; RCV001376600 ; RCV001553684 ; RCV001831507
• dbSNP Id: rs121918248
• ExAC: 6:49427128 G / A
• gnomAD v2: 6-49427128-G-A
• gnomAD v3: 6-49459415-G-A
• gnomAD v4: 6-49459415-G-A
• MyVariant Identifiers: chr6:g.49427128G>A (hg19) ; chr6:g.49459415G>A (hg38)
• PubMed: PMID:1970180 ; PMID:2881300 ; PMID:16281286 ; PMID:20301409

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49459415G>A , CM000668.2:g.49459415G>A	GRCh38
NC_000006.11:g.49427128G>A , CM000668.1:g.49427128G>A	GRCh37
NC_000006.10:g.49535087G>A	NCBI36
NG_007100.1:g.8725C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.52C>T MANE Select	ENSP00000274813.3:p.Gln18Ter
ENST00000274813.3:c.52C>T	ENSP00000274813.3:p.Gln18Ter
NM_000255.3:c.52C>T	NP_000246.2:p.Gln18Ter
XM_005249143.2:c.52C>T	XP_005249200.1:p.Gln18Ter
XM_005249143.3:c.52C>T	XP_005249200.1:p.Gln18Ter
NM_000255.4:c.52C>T MANE Select	NP_000246.2:p.Gln18Ter