Canonical Allele Identifier: CA375223456
Gene: ASS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130452230T>A , CM000671.2:g.130452230T>A GRCh38
NC_000009.11:g.133327617T>A , CM000671.1:g.133327617T>A GRCh37
NC_000009.10:g.132317438T>A NCBI36
NG_011542.1:g.12524T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.2T>A MANE Select ENSP00000253004.6:p.Met1Lys
ENST00000352480.9:c.2T>A ENSP00000253004.6:p.Met1Lys
ENST00000372393.7:c.2T>A ENSP00000361469.2:p.Met1Lys
ENST00000372394.5:c.2T>A ENSP00000361471.1:p.Met1Lys
ENST00000422569.5:c.2T>A ENSP00000394212.1:p.Met1Lys
ENST00000443588.1:c.2T>A ENSP00000397785.1:p.Met1Lys
NM_000050.4:c.2T>A NP_000041.2:p.Met1Lys
NM_054012.3:c.2T>A NP_446464.1:p.Met1Lys
XM_005272200.2:c.2T>A XP_005272257.1:p.Met1Lys
XM_011518705.1:c.116T>A XP_011517007.1:p.Met39Lys
XM_005272200.3:c.2T>A XP_005272257.1:p.Met1Lys
XM_011518705.2:c.116T>A XP_011517007.1:p.Met39Lys
XM_017014729.1:c.98T>A XP_016870218.1:p.Met33Lys
NM_054012.4:c.2T>A MANE Select NP_446464.1:p.Met1Lys