Canonical Allele Identifier: CA2693015490

Gene: ARSL

Linked Data

• gnomAD v4: X-2934763-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.2934763C>A , CM000685.2:g.2934763C>A	GRCh38
NC_000023.10:g.2852804C>A , CM000685.1:g.2852804C>A	GRCh37
NC_000023.9:g.2862804C>A	NCBI36
NG_007091.1:g.34508G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000540563.6:c.*69G>T	ENSP00000438198.2:n.*69G>T
ENST00000681963.1:c.*69G>T	ENSP00000507760.1:n.*69G>T
ENST00000682184.1:c.*69G>T	ENSP00000507043.1:n.*69G>T
ENST00000683191.1:n.1619G>T
ENST00000683290.1:c.*69G>T	ENSP00000508156.1:n.*69G>T
ENST00000683677.1:c.*69G>T	ENSP00000506786.1:n.*69G>T
ENST00000684117.1:c.*69G>T	ENSP00000508337.1:n.*69G>T
ENST00000684364.1:c.*69G>T	ENSP00000507304.1:n.*69G>T
ENST00000381134.9:c.*69G>T MANE Select	ENSP00000370526.3:n.*69G>T
ENST00000672097.1:c.*69G>T	ENSP00000500727.1:n.*69G>T
ENST00000672761.1:c.*69G>T	ENSP00000500108.1:n.*69G>T
ENST00000673032.1:c.*69G>T	ENSP00000500778.1:n.*69G>T
ENST00000540563.5:c.*69G>T	ENSP00000438198.1:n.*69G>T
ENST00000545496.5:c.*69G>T	ENSP00000441417.1:n.*69G>T
NM_000047.2:c.*69G>T	NP_000038.2:n.*69G>T
NM_001282628.1:c.*69G>T	NP_001269557.1:n.*69G>T
NM_001282631.1:c.*69G>T	NP_001269560.1:n.*69G>T
NM_000047.3:c.*69G>T MANE Select	NP_000038.2:n.*69G>T
NM_001282628.2:c.*69G>T	NP_001269557.1:n.*69G>T