Canonical Allele Identifier: CA357255455

Gene: ABRAXAS1 MRPS18C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.83462677G>A , CM000666.2:g.83462677G>A	GRCh38
NC_000004.11:g.84383830G>A , CM000666.1:g.84383830G>A	GRCh37
NC_000004.10:g.84602854G>A	NCBI36
NG_051599.1:g.27502C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_139076.3:c.1022C>T (ABRAXAS1) MANE Select	NP_620775.2:p.Pro341Leu
ENST00000321945.12:c.1022C>T (ABRAXAS1) MANE Select	ENSP00000369857.3:p.Pro341Leu
NM_001345962.1:c.695C>T (ABRAXAS1)	NP_001332891.1:p.Pro232Leu
NM_001345962.2:c.695C>T (ABRAXAS1)	NP_001332891.1:p.Pro232Leu
NM_139076.2:c.1022C>T (ABRAXAS1)	NP_620775.2:p.Pro341Leu
ENST00000321945.11:c.1022C>T (ABRAXAS1)	ENSP00000369857.3:p.Pro341Leu
ENST00000475656.6:c.*730C>T (ABRAXAS1)	ENSP00000426080.1:n.*730C>T
ENST00000504777.1:n.1296C>T (ABRAXAS1)
ENST00000506553.5:c.875C>T (ABRAXAS1)	ENSP00000426763.1:p.Pro292Leu
ENST00000509571.1:n.41+1444G>A (MRPS18C)
ENST00000509970.5:c.376+1444G>A (MRPS18C)
XM_005263280.3:c.875C>T (ABRAXAS1)	XP_005263337.1:p.Pro292Leu
XM_005263280.5:c.875C>T (ABRAXAS1)	XP_005263337.1:p.Pro292Leu
XM_005263281.3:c.761C>T (ABRAXAS1)	XP_005263338.1:p.Pro254Leu
XM_011532318.1:c.557C>T (ABRAXAS1)	XP_011530620.1:p.Pro186Leu