Canonical Allele Identifier: CA6650615

Gene: MARS1 MIR6758

Linked Data

• ClinVar Variation Id: 1978020
• ClinVar RCV Id: RCV002741624
• dbSNP Id: rs771148854
• ExAC: 12:57906517 C / G
• gnomAD v2: 12-57906517-C-G
• gnomAD v4: 12-57512734-C-G
• MyVariant Identifiers: chr12:g.57906517C>G (hg19) ; chr12:g.57512734C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57512734C>G , CM000674.2:g.57512734C>G	GRCh38
NC_000012.11:g.57906517C>G , CM000674.1:g.57906517C>G	GRCh37
NC_000012.10:g.56192784C>G	NCBI36
NG_034077.1:g.29782C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262027.10:c.1754-17C>G (MARS1) MANE Select	ENSP00000262027.5:n.1754-17C>G
ENST00000262027.9:c.1754-17C>G (MARS1)	ENSP00000262027.5:n.1754-17C>G
ENST00000537638.6:c.*46-17C>G (MARS1)	ENSP00000446168.2:n.*46-17C>G
ENST00000545888.6:c.*1255-17C>G (MARS1)	ENSP00000439307.2:n.*1255-17C>G
ENST00000546971.5:n.498-17C>G (MARS1)
ENST00000548202.5:n.244C>G (MARS1)
ENST00000548944.1:c.134-3761C>G (MARS1)	ENSP00000449071.1:n.134-3761C>G
ENST00000549048.1:n.419-17C>G (MARS1)
ENST00000628866.2:c.*1255-17C>G (MARS1)	ENSP00000486738.1:n.*1255-17C>G
NM_004990.3:c.1754-17C>G (MARS1)	NP_004981.2:n.1754-17C>G
NR_106816.1:n.47C>G (MIR6758)
XM_006719398.2:c.1052-17C>G (MARS1)	XP_006719461.1:n.1052-17C>G
XM_011538353.1:c.*46-17C>G (MARS1)	XP_011536655.1:n.*46-17C>G
XM_006719398.4:c.1052-17C>G (MARS1)	XP_006719461.1:n.1052-17C>G
XR_001748704.2:n.1710-17C>G (MARS1)
XR_002957327.1:n.1701-17C>G (MARS1)
NM_004990.4:c.1754-17C>G (MARS1) MANE Select	NP_004981.2:n.1754-17C>G