Canonical Allele Identifier: CA375232195

Gene: ASS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130494971T>G , CM000671.2:g.130494971T>G	GRCh38
NC_000009.11:g.133370358T>G , CM000671.1:g.133370358T>G	GRCh37
NC_000009.10:g.132360179T>G	NCBI36
NG_011542.1:g.55265T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_054012.4:c.1075T>G MANE Select	NP_446464.1:p.Tyr359Asp
ENST00000352480.10:c.1075T>G MANE Select	ENSP00000253004.6:p.Tyr359Asp
NM_000050.4:c.1075T>G	NP_000041.2:p.Tyr359Asp
NM_054012.3:c.1075T>G	NP_446464.1:p.Tyr359Asp
ENST00000352480.9:c.1075T>G	ENSP00000253004.6:p.Tyr359Asp
ENST00000372386.6:n.346T>G
ENST00000372393.7:c.1075T>G	ENSP00000361469.2:p.Tyr359Asp
ENST00000372394.5:c.1075T>G	ENSP00000361471.1:p.Tyr359Asp
XM_005272200.2:c.1075T>G	XP_005272257.1:p.Tyr359Asp
XM_005272200.3:c.1075T>G	XP_005272257.1:p.Tyr359Asp
XM_011518705.1:c.1189T>G	XP_011517007.1:p.Tyr397Asp
XM_011518705.2:c.1189T>G	XP_011517007.1:p.Tyr397Asp
XM_017014729.1:c.1171T>G	XP_016870218.1:p.Tyr391Asp
XR_930393.1:n.1060-2714A>C
XR_930393.2:n.1102-2714A>C