Canonical Allele Identifier: CA360194260

Gene: ARSB

Linked Data

• dbSNP Id: rs1352721120
• gnomAD v2: 5-78264942-A-G
• gnomAD v4: 5-78969119-A-G
• MyVariant Identifiers: chr5:g.78264942A>G (hg19) ; chr5:g.78969119A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78969119A>G , CM000667.2:g.78969119A>G	GRCh38
NC_000005.9:g.78264942A>G , CM000667.1:g.78264942A>G	GRCh37
NC_000005.8:g.78300698A>G	NCBI36
NG_007089.1:g.22416T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264914.10:c.386T>C MANE Select	ENSP00000264914.4:p.Leu129Pro
ENST00000565165.2:c.386T>C	ENSP00000456339.2:p.Leu129Pro
ENST00000264914.8:c.386T>C	ENSP00000264914.4:p.Leu129Pro
ENST00000396151.7:c.386T>C	ENSP00000379455.3:p.Leu129Pro
ENST00000565165.1:c.386T>C	ENSP00000456339.1:p.Leu129Pro
NM_000046.3:c.386T>C	NP_000037.2:p.Leu129Pro
NM_198709.2:c.386T>C	NP_942002.1:p.Leu129Pro
XM_005248506.3:c.386T>C	XP_005248563.1:p.Leu129Pro
XM_006714615.2:c.386T>C	XP_006714678.1:p.Leu129Pro
XM_011543390.1:c.386T>C	XP_011541692.1:p.Leu129Pro
XM_011543391.1:c.386T>C	XP_011541693.1:p.Leu129Pro
XM_011543392.1:c.386T>C	XP_011541694.1:p.Leu129Pro
XM_011543393.1:c.386T>C	XP_011541695.1:p.Leu129Pro
NM_000046.4:c.386T>C	NP_000037.2:p.Leu129Pro
XM_011543391.3:c.386T>C	XP_011541693.1:p.Leu129Pro
XM_011543392.3:c.386T>C	XP_011541694.1:p.Leu129Pro
XM_011543393.2:c.386T>C	XP_011541695.1:p.Leu129Pro
XM_017009471.2:c.386T>C	XP_016864960.1:p.Leu129Pro
XR_001742065.2:n.457T>C
XR_001742066.2:n.457T>C
NM_000046.5:c.386T>C MANE Select	NP_000037.2:p.Leu129Pro
NM_198709.3:c.386T>C	NP_942002.1:p.Leu129Pro