Canonical Allele Identifier: CA375232219

Gene: ASS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130494984G>C , CM000671.2:g.130494984G>C	GRCh38
NC_000009.11:g.133370371G>C , CM000671.1:g.133370371G>C	GRCh37
NC_000009.10:g.132360192G>C	NCBI36
NG_011542.1:g.55278G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_054012.4:c.1088G>C MANE Select	NP_446464.1:p.Arg363Pro
ENST00000352480.10:c.1088G>C MANE Select	ENSP00000253004.6:p.Arg363Pro
NM_000050.4:c.1088G>C	NP_000041.2:p.Arg363Pro
NM_054012.3:c.1088G>C	NP_446464.1:p.Arg363Pro
ENST00000352480.9:c.1088G>C	ENSP00000253004.6:p.Arg363Pro
ENST00000372386.6:n.359G>C
ENST00000372393.7:c.1088G>C	ENSP00000361469.2:p.Arg363Pro
ENST00000372394.5:c.1088G>C	ENSP00000361471.1:p.Arg363Pro
XM_005272200.2:c.1088G>C	XP_005272257.1:p.Arg363Pro
XM_005272200.3:c.1088G>C	XP_005272257.1:p.Arg363Pro
XM_011518705.1:c.1202G>C	XP_011517007.1:p.Arg401Pro
XM_011518705.2:c.1202G>C	XP_011517007.1:p.Arg401Pro
XM_017014729.1:c.1184G>C	XP_016870218.1:p.Arg395Pro
XR_930393.1:n.1060-2727C>G
XR_930393.2:n.1102-2727C>G