Canonical Allele Identifier: CA445400333

Gene: ARSB

Linked Data

• MyVariant Identifiers: chr5:g.78076295T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78780472T>G , CM000667.2:g.78780472T>G	GRCh38
NC_000005.9:g.78076295T>G , CM000667.1:g.78076295T>G	GRCh37
NC_000005.8:g.78112051T>G	NCBI36
NG_007089.1:g.211063A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264914.10:c.1527A>C MANE Select	ENSP00000264914.4:p.Ser509=
ENST00000264914.8:c.1527A>C	ENSP00000264914.4:p.Ser509=
ENST00000521011.1:n.492A>C
NM_000046.3:c.1527A>C	NP_000037.2:p.Ser509=
XM_011543390.1:c.1527A>C	XP_011541692.1:p.Ser509=
NM_000046.4:c.1527A>C	NP_000037.2:p.Ser509=
NM_000046.5:c.1527A>C MANE Select	NP_000037.2:p.Ser509=