Canonical Allele Identifier: CA467385588
Gene: ASS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.133364736A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130489349A>C , CM000671.2:g.130489349A>C GRCh38
NC_000009.11:g.133364736A>C , CM000671.1:g.133364736A>C GRCh37
NC_000009.10:g.132354557A>C NCBI36
NG_011542.1:g.49643A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000352480.10:c.855A>C MANE Select ENSP00000253004.6:p.Pro285=
ENST00000352480.9:c.855A>C ENSP00000253004.6:p.Pro285=
ENST00000372386.6:n.126A>C
ENST00000372393.7:c.855A>C ENSP00000361469.2:p.Pro285=
ENST00000372394.5:c.855A>C ENSP00000361471.1:p.Pro285=
ENST00000470849.4:n.580A>C
ENST00000492400.5:n.364A>C
ENST00000493984.6:n.632A>C
NM_000050.4:c.855A>C NP_000041.2:p.Pro285=
NM_054012.3:c.855A>C NP_446464.1:p.Pro285=
XM_005272200.2:c.855A>C XP_005272257.1:p.Pro285=
XM_011518705.1:c.969A>C XP_011517007.1:p.Pro323=
XM_005272200.3:c.855A>C XP_005272257.1:p.Pro285=
XM_011518705.2:c.969A>C XP_011517007.1:p.Pro323=
XM_017014729.1:c.951A>C XP_016870218.1:p.Pro317=
NM_054012.4:c.855A>C MANE Select NP_446464.1:p.Pro285=