Canonical Allele Identifier: CA690283225

Gene: MARS1

Linked Data

• dbSNP Id: rs1227046416
• gnomAD v3: 12-57511629-ATG-A
• gnomAD v4: 12-57511629-ATG-A
• MyVariant Identifiers: chr12:g.57905413_57905414del (hg19) ; chr12:g.57511630_57511631del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57511633_57511634del , CM000674.2:g.57511633_57511634del	GRCh38
NC_000012.11:g.57905416_57905417del , CM000674.1:g.57905416_57905417del	GRCh37
NC_000012.10:g.56191683_56191684del	NCBI36
NG_034077.1:g.28681_28682del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1369-65_1369-64del MANE Select	ENSP00000262027.5:n.1369-65_1369-64del
ENST00000262027.9:c.1369-65_1369-64del	ENSP00000262027.5:n.1369-65_1369-64del
ENST00000447721.6:n.1011-65_1011-64del
ENST00000537638.6:c.1369-65_1369-64del	ENSP00000446168.2:n.1369-65_1369-64del
ENST00000545888.6:c.*870-65_*870-64del	ENSP00000439307.2:n.*870-65_*870-64del
ENST00000546971.5:n.48_49del
ENST00000548944.1:c.134-4862_134-4861del	ENSP00000449071.1:n.134-4862_134-4861del
ENST00000549603.1:n.315-65_315-64del
ENST00000628866.2:c.*870-65_*870-64del	ENSP00000486738.1:n.*870-65_*870-64del
NM_004990.3:c.1369-65_1369-64del	NP_004981.2:n.1369-65_1369-64del
XM_006719398.2:c.667-65_667-64del	XP_006719461.1:n.667-65_667-64del
XM_011538353.1:c.1369-65_1369-64del	XP_011536655.1:n.1369-65_1369-64del
XM_006719398.4:c.667-65_667-64del	XP_006719461.1:n.667-65_667-64del
XR_001748704.2:n.1392-65_1392-64del
XR_002957327.1:n.1316-65_1316-64del
NM_004990.4:c.1369-65_1369-64del MANE Select	NP_004981.2:n.1369-65_1369-64del