Canonical Allele Identifier: CA312358
Gene: ASS1 HGNC NCBI

Linked Data

dbSNP Id: rs796051935

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130464132G>A , CM000671.2:g.130464132G>A GRCh38
NC_000009.11:g.133339519G>A , CM000671.1:g.133339519G>A GRCh37
NC_000009.10:g.132329340G>A NCBI36
NG_011542.1:g.24426G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000352480.10:c.385G>A MANE Select ENSP00000253004.6:p.Glu129Lys
ENST00000352480.9:c.385G>A ENSP00000253004.6:p.Glu129Lys
ENST00000372393.7:c.385G>A ENSP00000361469.2:p.Glu129Lys
ENST00000372394.5:c.385G>A ENSP00000361471.1:p.Glu129Lys
ENST00000422569.5:c.385G>A ENSP00000394212.1:p.Glu129Lys
ENST00000443588.1:c.364-2593G>A ENSP00000397785.1:n.364-2593G>A
ENST00000467695.5:n.94G>A
NM_000050.4:c.385G>A NP_000041.2:p.Glu129Lys
NM_054012.3:c.385G>A NP_446464.1:p.Glu129Lys
XM_005272200.2:c.385G>A XP_005272257.1:p.Glu129Lys
XM_011518705.1:c.499G>A XP_011517007.1:p.Glu167Lys
XM_005272200.3:c.385G>A XP_005272257.1:p.Glu129Lys
XM_011518705.2:c.499G>A XP_011517007.1:p.Glu167Lys
XM_017014729.1:c.481G>A XP_016870218.1:p.Glu161Lys
NM_054012.4:c.385G>A MANE Select NP_446464.1:p.Glu129Lys