Canonical Allele Identifier: CA375230519

Gene: ASS1

Linked Data

• MyVariant Identifiers: chr9:g.133364756A>T (hg19) ; chr9:g.130489369A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489369A>T , CM000671.2:g.130489369A>T	GRCh38
NC_000009.11:g.133364756A>T , CM000671.1:g.133364756A>T	GRCh37
NC_000009.10:g.132354577A>T	NCBI36
NG_011542.1:g.49663A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.875A>T MANE Select	ENSP00000253004.6:p.His292Leu
ENST00000352480.9:c.875A>T	ENSP00000253004.6:p.His292Leu
ENST00000372386.6:n.146A>T
ENST00000372393.7:c.875A>T	ENSP00000361469.2:p.His292Leu
ENST00000372394.5:c.875A>T	ENSP00000361471.1:p.His292Leu
ENST00000470849.4:n.600A>T
ENST00000492400.5:n.384A>T
ENST00000493984.6:n.652A>T
NM_000050.4:c.875A>T	NP_000041.2:p.His292Leu
NM_054012.3:c.875A>T	NP_446464.1:p.His292Leu
XM_005272200.2:c.875A>T	XP_005272257.1:p.His292Leu
XM_011518705.1:c.989A>T	XP_011517007.1:p.His330Leu
XM_005272200.3:c.875A>T	XP_005272257.1:p.His292Leu
XM_011518705.2:c.989A>T	XP_011517007.1:p.His330Leu
XM_017014729.1:c.971A>T	XP_016870218.1:p.His324Leu
NM_054012.4:c.875A>T MANE Select	NP_446464.1:p.His292Leu