Canonical Allele Identifier: CA10582271

Gene: ABRAXAS1

Linked Data

• ClinVar Variation Id: 241852
• ClinVar RCV Id: RCV000232337 ; RCV003469164
• dbSNP Id: rs749184518
• gnomAD v3: 4-83482229-C-G
• gnomAD v4: 4-83482229-C-G
• MyVariant Identifiers: chr4:g.84403382C>G (hg19) ; chr4:g.83482229C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.83482229C>G , CM000666.2:g.83482229C>G	GRCh38
NC_000004.11:g.84403382C>G , CM000666.1:g.84403382C>G	GRCh37
NC_000004.10:g.84622406C>G	NCBI36
NG_051599.1:g.7950G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321945.12:c.103G>C MANE Select	ENSP00000369857.3:p.Gly35Arg
ENST00000321945.11:c.103G>C	ENSP00000369857.3:p.Gly35Arg
ENST00000475656.6:c.103G>C	ENSP00000426080.1:p.Gly35Arg
ENST00000503217.2:c.265G>C	ENSP00000481099.1:p.Gly89Arg
ENST00000505489.5:c.82G>C	ENSP00000480277.1:p.Gly28Arg
ENST00000506553.5:c.-45G>C	ENSP00000426763.1:n.-45G>C
ENST00000511801.1:c.*164G>C	ENSP00000421876.2:n.*164G>C
ENST00000515303.2:c.-49G>C	ENSP00000421068.1:n.-49G>C
NM_139076.2:c.103G>C	NP_620775.2:p.Gly35Arg
XM_005263280.3:c.-45G>C	XP_005263337.1:n.-45G>C
XM_005263281.3:c.103G>C	XP_005263338.1:p.Gly35Arg
NM_001345962.1:c.-158G>C	NP_001332891.1:n.-158G>C
XM_005263280.5:c.-45G>C	XP_005263337.1:n.-45G>C
XR_001741334.2:n.168G>C
NM_139076.3:c.103G>C MANE Select	NP_620775.2:p.Gly35Arg
NM_001345962.2:c.-158G>C	NP_001332891.1:n.-158G>C