Canonical Allele Identifier: CA375223633

Gene: ASS1

Linked Data

• MyVariant Identifiers: chr9:g.133327701A>T (hg19) ; chr9:g.130452314A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130452314A>T , CM000671.2:g.130452314A>T	GRCh38
NC_000009.11:g.133327701A>T , CM000671.1:g.133327701A>T	GRCh37
NC_000009.10:g.132317522A>T	NCBI36
NG_011542.1:g.12608A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.86A>T MANE Select	ENSP00000253004.6:p.Tyr29Phe
ENST00000352480.9:c.86A>T	ENSP00000253004.6:p.Tyr29Phe
ENST00000372393.7:c.86A>T	ENSP00000361469.2:p.Tyr29Phe
ENST00000372394.5:c.86A>T	ENSP00000361471.1:p.Tyr29Phe
ENST00000422569.5:c.86A>T	ENSP00000394212.1:p.Tyr29Phe
ENST00000443588.1:c.86A>T	ENSP00000397785.1:p.Tyr29Phe
NM_000050.4:c.86A>T	NP_000041.2:p.Tyr29Phe
NM_054012.3:c.86A>T	NP_446464.1:p.Tyr29Phe
XM_005272200.2:c.86A>T	XP_005272257.1:p.Tyr29Phe
XM_011518705.1:c.200A>T	XP_011517007.1:p.Tyr67Phe
XM_005272200.3:c.86A>T	XP_005272257.1:p.Tyr29Phe
XM_011518705.2:c.200A>T	XP_011517007.1:p.Tyr67Phe
XM_017014729.1:c.182A>T	XP_016870218.1:p.Tyr61Phe
NM_054012.4:c.86A>T MANE Select	NP_446464.1:p.Tyr29Phe