Canonical Allele Identifier: CA375227237

Gene: ASS1

Linked Data

• MyVariant Identifiers: chr9:g.133346267T>A (hg19) ; chr9:g.130470880T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130470880T>A , CM000671.2:g.130470880T>A	GRCh38
NC_000009.11:g.133346267T>A , CM000671.1:g.133346267T>A	GRCh37
NC_000009.10:g.132336088T>A	NCBI36
NG_011542.1:g.31174T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.542T>A MANE Select	ENSP00000253004.6:p.Met181Lys
ENST00000352480.9:c.542T>A	ENSP00000253004.6:p.Met181Lys
ENST00000372393.7:c.542T>A	ENSP00000361469.2:p.Met181Lys
ENST00000372394.5:c.542T>A	ENSP00000361471.1:p.Met181Lys
ENST00000422569.5:c.542T>A	ENSP00000394212.1:p.Met181Lys
ENST00000443588.1:c.485T>A	ENSP00000397785.1:p.Met162Lys
ENST00000467695.5:n.251T>A
ENST00000493984.6:n.373T>A
NM_000050.4:c.542T>A	NP_000041.2:p.Met181Lys
NM_054012.3:c.542T>A	NP_446464.1:p.Met181Lys
XM_005272200.2:c.542T>A	XP_005272257.1:p.Met181Lys
XM_011518705.1:c.656T>A	XP_011517007.1:p.Met219Lys
XM_005272200.3:c.542T>A	XP_005272257.1:p.Met181Lys
XM_011518705.2:c.656T>A	XP_011517007.1:p.Met219Lys
XM_017014729.1:c.638T>A	XP_016870218.1:p.Met213Lys
NM_054012.4:c.542T>A MANE Select	NP_446464.1:p.Met181Lys