Canonical Allele Identifier: CA375230799

Gene: ASS1

Linked Data

• MyVariant Identifiers: chr9:g.133364833G>T (hg19) ; chr9:g.130489446G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489446G>T , CM000671.2:g.130489446G>T	GRCh38
NC_000009.11:g.133364833G>T , CM000671.1:g.133364833G>T	GRCh37
NC_000009.10:g.132354654G>T	NCBI36
NG_011542.1:g.49740G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.952G>T MANE Select	ENSP00000253004.6:p.Ala318Ser
ENST00000352480.9:c.952G>T	ENSP00000253004.6:p.Ala318Ser
ENST00000372386.6:n.223G>T
ENST00000372393.7:c.952G>T	ENSP00000361469.2:p.Ala318Ser
ENST00000372394.5:c.952G>T	ENSP00000361471.1:p.Ala318Ser
NM_000050.4:c.952G>T	NP_000041.2:p.Ala318Ser
NM_054012.3:c.952G>T	NP_446464.1:p.Ala318Ser
XM_005272200.2:c.952G>T	XP_005272257.1:p.Ala318Ser
XM_011518705.1:c.1066G>T	XP_011517007.1:p.Ala356Ser
XM_005272200.3:c.952G>T	XP_005272257.1:p.Ala318Ser
XM_011518705.2:c.1066G>T	XP_011517007.1:p.Ala356Ser
XM_017014729.1:c.1048G>T	XP_016870218.1:p.Ala350Ser
NM_054012.4:c.952G>T MANE Select	NP_446464.1:p.Ala318Ser