Canonical Allele Identifier: CA357255011

Gene: ABRAXAS1 MRPS18C

Linked Data

• ClinVar Variation Id: 496529
• ClinVar RCV Id: RCV000586263
• dbSNP Id: rs1553936012
• MyVariant Identifiers: chr4:g.84383697C>G (hg19) ; chr4:g.83462544C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.83462544C>G , CM000666.2:g.83462544C>G	GRCh38
NC_000004.11:g.84383697C>G , CM000666.1:g.84383697C>G	GRCh37
NC_000004.10:g.84602721C>G	NCBI36
NG_051599.1:g.27635G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321945.12:c.1155G>C (ABRAXAS1) MANE Select	ENSP00000369857.3:p.Met385Ile
ENST00000321945.11:c.1155G>C (ABRAXAS1)	ENSP00000369857.3:p.Met385Ile
ENST00000475656.6:c.*863G>C (ABRAXAS1)	ENSP00000426080.1:n.*863G>C
ENST00000504777.1:n.1429G>C (ABRAXAS1)
ENST00000506553.5:c.1008G>C (ABRAXAS1)	ENSP00000426763.1:p.Met336Ile
ENST00000509571.1:n.41+1311C>G (MRPS18C)
ENST00000509970.5:c.376+1311C>G (MRPS18C)
NM_139076.2:c.1155G>C (ABRAXAS1)	NP_620775.2:p.Met385Ile
XM_005263280.3:c.1008G>C (ABRAXAS1)	XP_005263337.1:p.Met336Ile
XM_005263281.3:c.894G>C (ABRAXAS1)	XP_005263338.1:p.Met298Ile
XM_011532318.1:c.690G>C (ABRAXAS1)	XP_011530620.1:p.Met230Ile
NM_001345962.1:c.828G>C (ABRAXAS1)	NP_001332891.1:p.Met276Ile
XM_005263280.5:c.1008G>C (ABRAXAS1)	XP_005263337.1:p.Met336Ile
NM_139076.3:c.1155G>C (ABRAXAS1) MANE Select	NP_620775.2:p.Met385Ile
NM_001345962.2:c.828G>C (ABRAXAS1)	NP_001332891.1:p.Met276Ile