Canonical Allele Identifier: CA6650532

Gene: MARS1

Linked Data

• ClinVar Variation Id: 2926408
• ClinVar RCV Id: RCV003786694
• dbSNP Id: rs754505518
• ExAC: 12:57905609 CA / C
• gnomAD v2: 12-57905609-CA-C
• gnomAD v4: 12-57511826-CA-C
• MyVariant Identifiers: chr12:g.57905610del (hg19) ; chr12:g.57511827del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57511829del , CM000674.2:g.57511829del	GRCh38
NC_000012.11:g.57905612del , CM000674.1:g.57905612del	GRCh37
NC_000012.10:g.56191879del	NCBI36
NG_034077.1:g.28877del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1500del MANE Select	ENSP00000262027.5:p.Lys500AsnfsTer8
ENST00000262027.9:c.1500del	ENSP00000262027.5:p.Lys500AsnfsTer8
ENST00000447721.6:n.1142del
ENST00000537638.6:c.1500del	ENSP00000446168.2:p.Lys500AsnfsTer8
ENST00000545888.6:c.*1001del	ENSP00000439307.2:n.*1001del
ENST00000546971.5:n.244del
ENST00000548630.1:n.61del
ENST00000548944.1:c.134-4666del	ENSP00000449071.1:n.134-4666del
ENST00000549048.1:n.33del
ENST00000628866.2:c.*1001del	ENSP00000486738.1:n.*1001del
NM_004990.3:c.1500del	NP_004981.2:p.Lys500AsnfsTer8
XM_006719398.2:c.798del	XP_006719461.1:p.Lys266AsnfsTer8
XM_011538353.1:c.1500del	XP_011536655.1:p.Lys500AsnfsTer8
XM_006719398.4:c.798del	XP_006719461.1:p.Lys266AsnfsTer8
XR_001748704.2:n.1523del
XR_002957327.1:n.1447del
NM_004990.4:c.1500del MANE Select	NP_004981.2:p.Lys500AsnfsTer8