Canonical Allele Identifier: CA3318221

Gene: ARSB

Linked Data

• dbSNP Id: rs749796409
• ExAC: 5:78260314 T / A
• gnomAD v2: 5-78260314-T-A
• MyVariant Identifiers: chr5:g.78260314T>A (hg19) ; chr5:g.78964491T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78964491T>A , CM000667.2:g.78964491T>A	GRCh38
NC_000005.9:g.78260314T>A , CM000667.1:g.78260314T>A	GRCh37
NC_000005.8:g.78296070T>A	NCBI36
NG_007089.1:g.27044A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264914.10:c.615A>T MANE Select	ENSP00000264914.4:p.Gly205=
ENST00000565165.2:c.615A>T	ENSP00000456339.2:p.Gly205=
ENST00000264914.8:c.615A>T	ENSP00000264914.4:p.Gly205=
ENST00000396151.7:c.615A>T	ENSP00000379455.3:p.Gly205=
ENST00000565165.1:c.615A>T	ENSP00000456339.1:p.Gly205=
NM_000046.3:c.615A>T	NP_000037.2:p.Gly205=
NM_198709.2:c.615A>T	NP_942002.1:p.Gly205=
XM_005248506.3:c.615A>T	XP_005248563.1:p.Gly205=
XM_006714615.2:c.615A>T	XP_006714678.1:p.Gly205=
XM_011543390.1:c.615A>T	XP_011541692.1:p.Gly205=
XM_011543391.1:c.615A>T	XP_011541693.1:p.Gly205=
XM_011543392.1:c.615A>T	XP_011541694.1:p.Gly205=
XM_011543393.1:c.615A>T	XP_011541695.1:p.Gly205=
NM_000046.4:c.615A>T	NP_000037.2:p.Gly205=
XM_011543391.3:c.615A>T	XP_011541693.1:p.Gly205=
XM_011543392.3:c.615A>T	XP_011541694.1:p.Gly205=
XM_011543393.2:c.615A>T	XP_011541695.1:p.Gly205=
XM_017009471.2:c.615A>T	XP_016864960.1:p.Gly205=
XR_001742065.2:n.686A>T
XR_001742066.2:n.686A>T
NM_000046.5:c.615A>T MANE Select	NP_000037.2:p.Gly205=
NM_198709.3:c.615A>T	NP_942002.1:p.Gly205=