Canonical Allele Identifier: CA145177

Gene: MARS1

Linked Data

• ClinVar Variation Id: 68463
• ClinVar RCV Id: RCV000059332 ; RCV000521595 ; RCV000709860 ; RCV001173433 ; RCV004019069 ; RCV002514303
• dbSNP Id: rs140467171
• ExAC: 12:57894120 T / C
• gnomAD v2: 12-57894120-T-C
• gnomAD v3: 12-57500337-T-C
• gnomAD v4: 12-57500337-T-C
• MyVariant Identifiers: chr12:g.57894120T>C (hg19) ; chr12:g.57500337T>C (hg38)
• PubMed: PMID:24103465

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57500337T>C , CM000674.2:g.57500337T>C	GRCh38
NC_000012.11:g.57894120T>C , CM000674.1:g.57894120T>C	GRCh37
NC_000012.10:g.56180387T>C	NCBI36
NG_034077.1:g.17385T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1108T>C MANE Select	ENSP00000262027.5:p.Phe370Leu
ENST00000262027.9:c.1108T>C	ENSP00000262027.5:p.Phe370Leu
ENST00000447721.6:n.750T>C
ENST00000537638.6:c.1108T>C	ENSP00000446168.2:p.Phe370Leu
ENST00000545888.6:c.*609T>C	ENSP00000439307.2:n.*609T>C
ENST00000549827.1:n.224T>C
ENST00000551892.1:c.*473T>C	ENSP00000450018.1:n.*473T>C
ENST00000552371.1:c.606T>C
ENST00000628866.2:c.*609T>C	ENSP00000486738.1:n.*609T>C
NM_004990.3:c.1108T>C	NP_004981.2:p.Phe370Leu
XM_006719398.2:c.406T>C	XP_006719461.1:p.Phe136Leu
XM_011538353.1:c.1108T>C	XP_011536655.1:p.Phe370Leu
XM_006719398.4:c.406T>C	XP_006719461.1:p.Phe136Leu
XR_001748704.2:n.1131T>C
XR_002957327.1:n.1055T>C
NM_004990.4:c.1108T>C MANE Select	NP_004981.2:p.Phe370Leu