Canonical Allele Identifier: CA360338882
Gene: ARSB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.78780455G>A , CM000667.2:g.78780455G>A GRCh38
NC_000005.9:g.78076278G>A , CM000667.1:g.78076278G>A GRCh37
NC_000005.8:g.78112034G>A NCBI36
NG_007089.1:g.211080C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264914.10:c.1544C>T MANE Select ENSP00000264914.4:p.Pro515Leu
ENST00000264914.8:c.1544C>T ENSP00000264914.4:p.Pro515Leu
ENST00000521011.1:n.509C>T
NM_000046.3:c.1544C>T NP_000037.2:p.Pro515Leu
XM_011543390.1:c.1544C>T XP_011541692.1:p.Pro515Leu
NM_000046.4:c.1544C>T NP_000037.2:p.Pro515Leu
NM_000046.5:c.1544C>T MANE Select NP_000037.2:p.Pro515Leu