Canonical Allele Identifier: CA375232698

Gene: ASS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130499543C>T , CM000671.2:g.130499543C>T	GRCh38
NC_000009.11:g.133374930C>T , CM000671.1:g.133374930C>T	GRCh37
NC_000009.10:g.132364751C>T	NCBI36
NG_011542.1:g.59837C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_054012.4:c.1166C>T MANE Select	NP_446464.1:p.Thr389Ile
ENST00000352480.10:c.1166C>T MANE Select	ENSP00000253004.6:p.Thr389Ile
NM_000050.4:c.1166C>T	NP_000041.2:p.Thr389Ile
NM_054012.3:c.1166C>T	NP_446464.1:p.Thr389Ile
ENST00000352480.9:c.1166C>T	ENSP00000253004.6:p.Thr389Ile
ENST00000372386.6:n.437C>T
ENST00000372393.7:c.1166C>T	ENSP00000361469.2:p.Thr389Ile
ENST00000372394.5:c.1166C>T	ENSP00000361471.1:p.Thr389Ile
XM_005272200.2:c.1166C>T	XP_005272257.1:p.Thr389Ile
XM_005272200.3:c.1166C>T	XP_005272257.1:p.Thr389Ile
XM_011518705.1:c.1280C>T	XP_011517007.1:p.Thr427Ile
XM_011518705.2:c.1280C>T	XP_011517007.1:p.Thr427Ile
XM_017014729.1:c.1262C>T	XP_016870218.1:p.Thr421Ile
XR_930393.1:n.1059+404G>A
XR_930393.2:n.1101+404G>A