Canonical Allele Identifier: CA5283661

Gene: ASS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130499542A>G , CM000671.2:g.130499542A>G	GRCh38
NC_000009.11:g.133374929A>G , CM000671.1:g.133374929A>G	GRCh37
NC_000009.10:g.132364750A>G	NCBI36
NG_011542.1:g.59836A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_054012.4:c.1165A>G MANE Select	NP_446464.1:p.Thr389Ala
ENST00000352480.10:c.1165A>G MANE Select	ENSP00000253004.6:p.Thr389Ala
NM_000050.4:c.1165A>G	NP_000041.2:p.Thr389Ala
NM_054012.3:c.1165A>G	NP_446464.1:p.Thr389Ala
ENST00000352480.9:c.1165A>G	ENSP00000253004.6:p.Thr389Ala
ENST00000372386.6:n.436A>G
ENST00000372393.7:c.1165A>G	ENSP00000361469.2:p.Thr389Ala
ENST00000372394.5:c.1165A>G	ENSP00000361471.1:p.Thr389Ala
XM_005272200.2:c.1165A>G	XP_005272257.1:p.Thr389Ala
XM_005272200.3:c.1165A>G	XP_005272257.1:p.Thr389Ala
XM_011518705.1:c.1279A>G	XP_011517007.1:p.Thr427Ala
XM_011518705.2:c.1279A>G	XP_011517007.1:p.Thr427Ala
XM_017014729.1:c.1261A>G	XP_016870218.1:p.Thr421Ala
XR_930393.1:n.1059+405T>C
XR_930393.2:n.1101+405T>C