Canonical Allele Identifier: CA375230550

Gene: ASS1

Linked Data

• MyVariant Identifiers: chr9:g.133364770A>C (hg19) ; chr9:g.130489383A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489383A>C , CM000671.2:g.130489383A>C	GRCh38
NC_000009.11:g.133364770A>C , CM000671.1:g.133364770A>C	GRCh37
NC_000009.10:g.132354591A>C	NCBI36
NG_011542.1:g.49677A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.889A>C MANE Select	ENSP00000253004.6:p.Ile297Leu
ENST00000352480.9:c.889A>C	ENSP00000253004.6:p.Ile297Leu
ENST00000372386.6:n.160A>C
ENST00000372393.7:c.889A>C	ENSP00000361469.2:p.Ile297Leu
ENST00000372394.5:c.889A>C	ENSP00000361471.1:p.Ile297Leu
ENST00000470849.4:n.614A>C
ENST00000492400.5:n.398A>C
ENST00000493984.6:n.666A>C
NM_000050.4:c.889A>C	NP_000041.2:p.Ile297Leu
NM_054012.3:c.889A>C	NP_446464.1:p.Ile297Leu
XM_005272200.2:c.889A>C	XP_005272257.1:p.Ile297Leu
XM_011518705.1:c.1003A>C	XP_011517007.1:p.Ile335Leu
XM_005272200.3:c.889A>C	XP_005272257.1:p.Ile297Leu
XM_011518705.2:c.1003A>C	XP_011517007.1:p.Ile335Leu
XM_017014729.1:c.985A>C	XP_016870218.1:p.Ile329Leu
NM_054012.4:c.889A>C MANE Select	NP_446464.1:p.Ile297Leu