Canonical Allele Identifier: CA360343553
Community Standard Title: NM_000046.5(ARSB):c.903C>G (p.Asn301Lys)
Gene: ARSB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.78885823G>C , CM000667.2:g.78885823G>C GRCh38
NC_000005.9:g.78181646G>C , CM000667.1:g.78181646G>C GRCh37
NC_000005.8:g.78217402G>C NCBI36
NG_007089.1:g.105712C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000046.5:c.903C>G MANE Select NP_000037.2:p.Asn301Lys
ENST00000264914.10:c.903C>G MANE Select ENSP00000264914.4:p.Asn301Lys
NM_000046.3:c.903C>G NP_000037.2:p.Asn301Lys
NM_000046.4:c.903C>G NP_000037.2:p.Asn301Lys
NM_198709.2:c.903C>G NP_942002.1:p.Asn301Lys
NM_198709.3:c.903C>G NP_942002.1:p.Asn301Lys
ENST00000264914.8:c.903C>G ENSP00000264914.4:p.Asn301Lys
ENST00000396151.7:c.903C>G ENSP00000379455.3:p.Asn301Lys
ENST00000521800.1:n.8C>G
ENST00000521800.2:n.85C>G
ENST00000565165.1:c.903C>G ENSP00000456339.1:p.Asn301Lys
ENST00000565165.2:c.903C>G ENSP00000456339.2:p.Asn301Lys
XM_005248506.3:c.903C>G XP_005248563.1:p.Asn301Lys
XM_011543390.1:c.903C>G XP_011541692.1:p.Asn301Lys
XM_011543391.1:c.903C>G XP_011541693.1:p.Asn301Lys
XM_011543391.3:c.903C>G XP_011541693.1:p.Asn301Lys
XM_011543392.1:c.903C>G XP_011541694.1:p.Asn301Lys
XM_011543392.3:c.903C>G XP_011541694.1:p.Asn301Lys
XM_011543393.1:c.903C>G XP_011541695.1:p.Asn301Lys
XM_011543393.2:c.903C>G XP_011541695.1:p.Asn301Lys
XM_017009471.2:c.903C>G XP_016864960.1:p.Asn301Lys
XR_001742065.2:n.974C>G
XR_001742066.2:n.974C>G