Canonical Allele Identifier: CA590702267

Gene: ASS1

Linked Data

• dbSNP Id: rs1396165903
• gnomAD v2: 9-133370429-A-C
• MyVariant Identifiers: chr9:g.133370429A>C (hg19) ; chr9:g.130495042A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130495042A>C , CM000671.2:g.130495042A>C	GRCh38
NC_000009.11:g.133370429A>C , CM000671.1:g.133370429A>C	GRCh37
NC_000009.10:g.132360250A>C	NCBI36
NG_011542.1:g.55336A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.1127+19A>C MANE Select	ENSP00000253004.6:n.1127+19A>C
ENST00000352480.9:c.1127+19A>C	ENSP00000253004.6:n.1127+19A>C
ENST00000372386.6:n.398+19A>C
ENST00000372393.7:c.1127+19A>C	ENSP00000361469.2:n.1127+19A>C
ENST00000372394.5:c.1127+19A>C	ENSP00000361471.1:n.1127+19A>C
NM_000050.4:c.1127+19A>C	NP_000041.2:n.1127+19A>C
NM_054012.3:c.1127+19A>C	NP_446464.1:n.1127+19A>C
XM_005272200.2:c.1127+19A>C	XP_005272257.1:n.1127+19A>C
XM_011518705.1:c.1241+19A>C	XP_011517007.1:n.1241+19A>C
XR_930393.1:n.1060-2785T>G
XM_005272200.3:c.1127+19A>C	XP_005272257.1:n.1127+19A>C
XM_011518705.2:c.1241+19A>C	XP_011517007.1:n.1241+19A>C
XM_017014729.1:c.1223+19A>C	XP_016870218.1:n.1223+19A>C
XR_930393.2:n.1102-2785T>G
NM_054012.4:c.1127+19A>C MANE Select	NP_446464.1:n.1127+19A>C