Canonical Allele Identifier: CA2575202919

Gene: MARS1

Linked Data

• gnomAD v4: 12-57511925-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57511925C>T , CM000674.2:g.57511925C>T	GRCh38
NC_000012.11:g.57905708C>T , CM000674.1:g.57905708C>T	GRCh37
NC_000012.10:g.56191975C>T	NCBI36
NG_034077.1:g.28973C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262027.10:c.1539+57C>T MANE Select	ENSP00000262027.5:n.1539+57C>T
ENST00000262027.9:c.1539+57C>T	ENSP00000262027.5:n.1539+57C>T
ENST00000447721.6:n.1181+57C>T
ENST00000537638.6:c.1539+57C>T	ENSP00000446168.2:n.1539+57C>T
ENST00000545888.6:c.*1040+57C>T	ENSP00000439307.2:n.*1040+57C>T
ENST00000546971.5:n.283+57C>T
ENST00000548630.1:n.100+57C>T
ENST00000548944.1:c.134-4570C>T	ENSP00000449071.1:n.134-4570C>T
ENST00000549048.1:n.72+57C>T
ENST00000628866.2:c.*1040+57C>T	ENSP00000486738.1:n.*1040+57C>T
NM_004990.3:c.1539+57C>T	NP_004981.2:n.1539+57C>T
XM_006719398.2:c.837+57C>T	XP_006719461.1:n.837+57C>T
XM_011538353.1:c.1539+57C>T	XP_011536655.1:n.1539+57C>T
XM_006719398.4:c.837+57C>T	XP_006719461.1:n.837+57C>T
XR_001748704.2:n.1562+57C>T
XR_002957327.1:n.1486+57C>T
NM_004990.4:c.1539+57C>T MANE Select	NP_004981.2:n.1539+57C>T