Canonical Allele Identifier: CA375225174
Gene: ASS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130458492T>G , CM000671.2:g.130458492T>G GRCh38
NC_000009.11:g.133333879T>G , CM000671.1:g.133333879T>G GRCh37
NC_000009.10:g.132323700T>G NCBI36
NG_011542.1:g.18786T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000352480.10:c.266T>G MANE Select ENSP00000253004.6:p.Leu89Arg
ENST00000352480.9:c.266T>G ENSP00000253004.6:p.Leu89Arg
ENST00000372393.7:c.266T>G ENSP00000361469.2:p.Leu89Arg
ENST00000372394.5:c.266T>G ENSP00000361471.1:p.Leu89Arg
ENST00000422569.5:c.266T>G ENSP00000394212.1:p.Leu89Arg
ENST00000443588.1:c.266T>G ENSP00000397785.1:p.Leu89Arg
NM_000050.4:c.266T>G NP_000041.2:p.Leu89Arg
NM_054012.3:c.266T>G NP_446464.1:p.Leu89Arg
XM_005272200.2:c.266T>G XP_005272257.1:p.Leu89Arg
XM_011518705.1:c.380T>G XP_011517007.1:p.Leu127Arg
XM_005272200.3:c.266T>G XP_005272257.1:p.Leu89Arg
XM_011518705.2:c.380T>G XP_011517007.1:p.Leu127Arg
XM_017014729.1:c.362T>G XP_016870218.1:p.Leu121Arg
NM_054012.4:c.266T>G MANE Select NP_446464.1:p.Leu89Arg