Canonical Allele Identifier: CA121690797

Gene: ARSB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78885747G>A , CM000667.2:g.78885747G>A	GRCh38
NC_000005.9:g.78181570G>A , CM000667.1:g.78181570G>A	GRCh37
NC_000005.8:g.78217326G>A	NCBI36
NG_007089.1:g.105788C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000046.5:c.979C>T MANE Select	NP_000037.2:p.Arg327Ter
ENST00000264914.10:c.979C>T MANE Select	ENSP00000264914.4:p.Arg327Ter
NM_000046.3:c.979C>T	NP_000037.2:p.Arg327Ter
NM_000046.4:c.979C>T	NP_000037.2:p.Arg327Ter
NM_198709.2:c.979C>T	NP_942002.1:p.Arg327Ter
NM_198709.3:c.979C>T	NP_942002.1:p.Arg327Ter
ENST00000264914.8:c.979C>T	ENSP00000264914.4:p.Arg327Ter
ENST00000396151.7:c.979C>T	ENSP00000379455.3:p.Arg327Ter
ENST00000521800.1:n.84C>T
ENST00000521800.2:n.161C>T
ENST00000565165.1:c.979C>T	ENSP00000456339.1:p.Arg327Ter
ENST00000565165.2:c.979C>T	ENSP00000456339.2:p.Arg327Ter
XM_005248506.3:c.979C>T	XP_005248563.1:p.Arg327Ter
XM_011543390.1:c.979C>T	XP_011541692.1:p.Arg327Ter
XM_011543391.1:c.979C>T	XP_011541693.1:p.Arg327Ter
XM_011543391.3:c.979C>T	XP_011541693.1:p.Arg327Ter
XM_011543392.1:c.979C>T	XP_011541694.1:p.Arg327Ter
XM_011543392.3:c.979C>T	XP_011541694.1:p.Arg327Ter
XM_011543393.1:c.979C>T	XP_011541695.1:p.Arg327Ter
XM_011543393.2:c.979C>T	XP_011541695.1:p.Arg327Ter
XM_017009471.2:c.979C>T	XP_016864960.1:p.Arg327Ter
XR_001742065.2:n.1050C>T
XR_001742066.2:n.1050C>T