Canonical Allele Identifier: CA6650127

Gene: MARS1

Linked Data

• ClinVar Variation Id: 380040
• ClinVar RCV Id: RCV000441002 ; RCV001174279 ; RCV001702644 ; RCV002230011
• dbSNP Id: rs183195960
• ExAC: 12:57883193 C / T
• gnomAD v2: 12-57883193-C-T
• gnomAD v3: 12-57489410-C-T
• gnomAD v4: 12-57489410-C-T
• MyVariant Identifiers: chr12:g.57883193C>T (hg19) ; chr12:g.57489410C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57489410C>T , CM000674.2:g.57489410C>T	GRCh38
NC_000012.11:g.57883193C>T , CM000674.1:g.57883193C>T	GRCh37
NC_000012.10:g.56169460C>T	NCBI36
NG_034077.1:g.6458C>T
NG_023205.2:g.4405G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.280-14C>T MANE Select	ENSP00000262027.5:n.280-14C>T
ENST00000262027.9:c.280-14C>T	ENSP00000262027.5:n.280-14C>T
ENST00000447721.6:n.133-797C>T
ENST00000537638.6:c.280-14C>T	ENSP00000446168.2:n.280-14C>T
ENST00000545888.6:c.280-14C>T	ENSP00000439307.2:n.280-14C>T
ENST00000546481.1:n.466-14C>T
ENST00000547062.5:n.524C>T
ENST00000547501.5:c.280-45C>T	ENSP00000447145.1:n.280-45C>T
ENST00000548674.5:n.250-14C>T
ENST00000548714.5:n.367C>T
ENST00000549074.5:c.200+301C>T	ENSP00000447258.1:n.200+301C>T
ENST00000550449.5:n.379C>T
ENST00000551431.5:c.279+65C>T	ENSP00000446729.1:n.279+65C>T
ENST00000551842.5:n.303-14C>T
ENST00000551892.1:c.110-868C>T	ENSP00000450018.1:n.110-868C>T
ENST00000552007.5:c.200+301C>T	ENSP00000448576.1:n.200+301C>T
ENST00000553123.1:n.504-14C>T
ENST00000553162.5:n.303-14C>T
ENST00000628866.2:c.279+65C>T	ENSP00000486738.1:n.279+65C>T
ENST00000630571.2:c.200+301C>T	ENSP00000485951.1:n.200+301C>T
ENST00000630803.1:c.110-868C>T	ENSP00000486356.1:n.110-868C>T
NM_004990.3:c.280-14C>T	NP_004981.2:n.280-14C>T
XM_006719398.2:c.-347-14C>T	XP_006719461.1:n.-347-14C>T
XM_011538353.1:c.280-14C>T	XP_011536655.1:n.280-14C>T
XM_006719398.4:c.-347-14C>T	XP_006719461.1:n.-347-14C>T
XR_001748704.2:n.303-14C>T
XR_002957327.1:n.303-14C>T
NM_004990.4:c.280-14C>T MANE Select	NP_004981.2:n.280-14C>T