Canonical Allele Identifier: CA1130629190

Gene: ARSL

Linked Data

• dbSNP Id: rs2089173104
• gnomAD v3: X-2934815-C-A
• gnomAD v4: X-2934815-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.2934815C>A , CM000685.2:g.2934815C>A	GRCh38
NC_000023.10:g.2852856C>A , CM000685.1:g.2852856C>A	GRCh37
NC_000023.9:g.2862856C>A	NCBI36
NG_007091.1:g.34456G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000540563.6:c.*17G>T	ENSP00000438198.2:n.*17G>T
ENST00000681963.1:c.*17G>T	ENSP00000507760.1:n.*17G>T
ENST00000682184.1:c.*17G>T	ENSP00000507043.1:n.*17G>T
ENST00000683191.1:n.1567G>T
ENST00000683290.1:c.*17G>T	ENSP00000508156.1:n.*17G>T
ENST00000683677.1:c.*17G>T	ENSP00000506786.1:n.*17G>T
ENST00000684117.1:c.*17G>T	ENSP00000508337.1:n.*17G>T
ENST00000684364.1:c.*17G>T	ENSP00000507304.1:n.*17G>T
ENST00000381134.9:c.*17G>T MANE Select	ENSP00000370526.3:n.*17G>T
ENST00000545496.6:c.*17G>T	ENSP00000441417.1:n.*17G>T
ENST00000672097.1:c.*17G>T	ENSP00000500727.1:n.*17G>T
ENST00000672761.1:c.*17G>T	ENSP00000500108.1:n.*17G>T
ENST00000673032.1:c.*17G>T	ENSP00000500778.1:n.*17G>T
ENST00000540563.5:c.*17G>T	ENSP00000438198.1:n.*17G>T
ENST00000545496.5:c.*17G>T	ENSP00000441417.1:n.*17G>T
NM_000047.2:c.*17G>T	NP_000038.2:n.*17G>T
NM_001282628.1:c.*17G>T	NP_001269557.1:n.*17G>T
NM_001282631.1:c.*17G>T	NP_001269560.1:n.*17G>T
XM_005274518.2:c.*17G>T	XP_005274575.1:n.*17G>T
XM_005274519.3:c.*17G>T	XP_005274576.1:n.*17G>T
XM_005274521.3:c.*17G>T	XP_005274578.1:n.*17G>T
XM_011545519.1:c.*17G>T	XP_011543821.1:n.*17G>T
XM_011545520.1:c.*17G>T	XP_011543822.1:n.*17G>T
XM_011545521.1:c.*17G>T	XP_011543823.1:n.*17G>T
XM_005274519.4:c.*17G>T	XP_005274576.1:n.*17G>T
XM_005274521.4:c.*17G>T	XP_005274578.1:n.*17G>T
XM_017029525.1:c.*17G>T	XP_016885014.1:n.*17G>T
XM_017029526.1:c.*17G>T	XP_016885015.1:n.*17G>T
NM_000047.3:c.*17G>T MANE Select	NP_000038.2:n.*17G>T
NM_001282631.2:c.*17G>T	NP_001269560.2:n.*17G>T
NM_001369079.1:c.*17G>T	NP_001356008.1:n.*17G>T
NM_001369080.1:c.*17G>T	NP_001356009.1:n.*17G>T
NM_001282628.2:c.*17G>T	NP_001269557.1:n.*17G>T