Canonical Allele Identifier: CA467388453
Gene: ASS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.133333790G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130458403G>C , CM000671.2:g.130458403G>C GRCh38
NC_000009.11:g.133333790G>C , CM000671.1:g.133333790G>C GRCh37
NC_000009.10:g.132323611G>C NCBI36
NG_011542.1:g.18697G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000352480.10:c.177G>C MANE Select ENSP00000253004.6:p.Val59=
ENST00000352480.9:c.177G>C ENSP00000253004.6:p.Val59=
ENST00000372393.7:c.177G>C ENSP00000361469.2:p.Val59=
ENST00000372394.5:c.177G>C ENSP00000361471.1:p.Val59=
ENST00000422569.5:c.177G>C ENSP00000394212.1:p.Val59=
ENST00000443588.1:c.177G>C ENSP00000397785.1:p.Val59=
NM_000050.4:c.177G>C NP_000041.2:p.Val59=
NM_054012.3:c.177G>C NP_446464.1:p.Val59=
XM_005272200.2:c.177G>C XP_005272257.1:p.Val59=
XM_011518705.1:c.291G>C XP_011517007.1:p.Val97=
XM_005272200.3:c.177G>C XP_005272257.1:p.Val59=
XM_011518705.2:c.291G>C XP_011517007.1:p.Val97=
XM_017014729.1:c.273G>C XP_016870218.1:p.Val91=
NM_054012.4:c.177G>C MANE Select NP_446464.1:p.Val59=