Canonical Allele Identifier: CA2674368906

Gene: ARSB

Linked Data

• gnomAD v4: 5-78885356-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78885356G>A , CM000667.2:g.78885356G>A	GRCh38
NC_000005.9:g.78181179G>A , CM000667.1:g.78181179G>A	GRCh37
NC_000005.8:g.78216935G>A	NCBI36
NG_007089.1:g.106179C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264914.10:c.1142+228C>T MANE Select	ENSP00000264914.4:n.1142+228C>T
ENST00000521800.2:n.325-228C>T
ENST00000565165.2:c.*173C>T	ENSP00000456339.2:n.*173C>T
ENST00000264914.8:c.1142+228C>T	ENSP00000264914.4:n.1142+228C>T
ENST00000396151.7:c.1142+228C>T	ENSP00000379455.3:n.1142+228C>T
ENST00000521800.1:n.248-228C>T
ENST00000565165.1:c.1142+228C>T	ENSP00000456339.1:n.1142+228C>T
NM_000046.3:c.1142+228C>T	NP_000037.2:n.1142+228C>T
NM_198709.2:c.1142+228C>T	NP_942002.1:n.1142+228C>T
XM_005248506.3:c.1142+228C>T	XP_005248563.1:n.1142+228C>T
XM_011543390.1:c.1142+228C>T	XP_011541692.1:n.1142+228C>T
XM_011543391.1:c.1142+228C>T	XP_011541693.1:n.1142+228C>T
XM_011543392.1:c.1142+228C>T	XP_011541694.1:n.1142+228C>T
XM_011543393.1:c.1143-228C>T	XP_011541695.1:n.1143-228C>T
NM_000046.4:c.1142+228C>T	NP_000037.2:n.1142+228C>T
XM_011543391.3:c.1142+228C>T	XP_011541693.1:n.1142+228C>T
XM_011543392.3:c.1142+228C>T	XP_011541694.1:n.1142+228C>T
XM_011543393.2:c.1143-228C>T	XP_011541695.1:n.1143-228C>T
XM_017009471.2:c.1142+228C>T	XP_016864960.1:n.1142+228C>T
XR_001742065.2:n.1213+228C>T
XR_001742066.2:n.1213+228C>T
NM_000046.5:c.1142+228C>T MANE Select	NP_000037.2:n.1142+228C>T
NM_198709.3:c.1142+228C>T	NP_942002.1:n.1142+228C>T