Canonical Allele Identifier: CA237761986
Community Standard Title: NM_004990.4(MARS1):c.1294-19C>G
Gene: MARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57504206C>G , CM000674.2:g.57504206C>G GRCh38
NC_000012.11:g.57897989C>G , CM000674.1:g.57897989C>G GRCh37
NC_000012.10:g.56184256C>G NCBI36
NG_034077.1:g.21254C>G

Transcript Alleles

HGVS Amino-acid Change
NM_004990.4:c.1294-19C>G MANE Select NP_004981.2:n.1294-19C>G
ENST00000262027.10:c.1294-19C>G MANE Select ENSP00000262027.5:n.1294-19C>G
NM_004990.3:c.1294-19C>G NP_004981.2:n.1294-19C>G
ENST00000262027.9:c.1294-19C>G ENSP00000262027.5:n.1294-19C>G
ENST00000447721.6:n.936-19C>G
ENST00000537638.6:c.1294-19C>G ENSP00000446168.2:n.1294-19C>G
ENST00000545888.6:c.*795-19C>G ENSP00000439307.2:n.*795-19C>G
ENST00000548944.1:c.133+3716C>G ENSP00000449071.1:n.133+3716C>G
ENST00000549603.1:n.221C>G
ENST00000549827.1:n.410-19C>G
ENST00000628866.2:c.*795-19C>G ENSP00000486738.1:n.*795-19C>G
XM_006719398.2:c.592-19C>G XP_006719461.1:n.592-19C>G
XM_006719398.4:c.592-19C>G XP_006719461.1:n.592-19C>G
XM_011538353.1:c.1294-19C>G XP_011536655.1:n.1294-19C>G
XR_001748704.2:n.1317-19C>G
XR_002957327.1:n.1241-19C>G