Canonical Allele Identifier: CA2693015485

Gene: ARSL

Linked Data

• gnomAD v4: X-2934759-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.2934759A>C , CM000685.2:g.2934759A>C	GRCh38
NC_000023.10:g.2852800A>C , CM000685.1:g.2852800A>C	GRCh37
NC_000023.9:g.2862800A>C	NCBI36
NG_007091.1:g.34512T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000540563.6:c.*73T>G	ENSP00000438198.2:n.*73T>G
ENST00000681963.1:c.*73T>G	ENSP00000507760.1:n.*73T>G
ENST00000682184.1:c.*73T>G	ENSP00000507043.1:n.*73T>G
ENST00000683191.1:n.1623T>G
ENST00000683290.1:c.*73T>G	ENSP00000508156.1:n.*73T>G
ENST00000683677.1:c.*73T>G	ENSP00000506786.1:n.*73T>G
ENST00000684117.1:c.*73T>G	ENSP00000508337.1:n.*73T>G
ENST00000684364.1:c.*73T>G	ENSP00000507304.1:n.*73T>G
ENST00000381134.9:c.*73T>G MANE Select	ENSP00000370526.3:n.*73T>G
ENST00000672097.1:c.*73T>G	ENSP00000500727.1:n.*73T>G
ENST00000672761.1:c.*73T>G	ENSP00000500108.1:n.*73T>G
ENST00000673032.1:c.*73T>G	ENSP00000500778.1:n.*73T>G
ENST00000540563.5:c.*73T>G	ENSP00000438198.1:n.*73T>G
ENST00000545496.5:c.*73T>G	ENSP00000441417.1:n.*73T>G
NM_000047.2:c.*73T>G	NP_000038.2:n.*73T>G
NM_001282628.1:c.*73T>G	NP_001269557.1:n.*73T>G
NM_001282631.1:c.*73T>G	NP_001269560.1:n.*73T>G
NM_000047.3:c.*73T>G MANE Select	NP_000038.2:n.*73T>G
NM_001282628.2:c.*73T>G	NP_001269557.1:n.*73T>G