Canonical Allele Identifier: CA375232194

Gene: ASS1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_054012.4:c.1075T>C MANE Select	NP_446464.1:p.Tyr359His
ENST00000352480.10:c.1075T>C MANE Select	ENSP00000253004.6:p.Tyr359His
NM_000050.4:c.1075T>C	NP_000041.2:p.Tyr359His
NM_054012.3:c.1075T>C	NP_446464.1:p.Tyr359His
ENST00000352480.9:c.1075T>C	ENSP00000253004.6:p.Tyr359His
ENST00000372386.6:n.346T>C
ENST00000372393.7:c.1075T>C	ENSP00000361469.2:p.Tyr359His
ENST00000372394.5:c.1075T>C	ENSP00000361471.1:p.Tyr359His
XM_005272200.2:c.1075T>C	XP_005272257.1:p.Tyr359His
XM_005272200.3:c.1075T>C	XP_005272257.1:p.Tyr359His
XM_011518705.1:c.1189T>C	XP_011517007.1:p.Tyr397His
XM_011518705.2:c.1189T>C	XP_011517007.1:p.Tyr397His
XM_017014729.1:c.1171T>C	XP_016870218.1:p.Tyr391His
XR_930393.1:n.1060-2714A>G
XR_930393.2:n.1102-2714A>G