Canonical Allele Identifier: CA375227284

Gene: ASS1

Linked Data

• MyVariant Identifiers: chr9:g.133346276A>C (hg19) ; chr9:g.130470889A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130470889A>C , CM000671.2:g.130470889A>C	GRCh38
NC_000009.11:g.133346276A>C , CM000671.1:g.133346276A>C	GRCh37
NC_000009.10:g.132336097A>C	NCBI36
NG_011542.1:g.31183A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.551A>C MANE Select	ENSP00000253004.6:p.Asn184Thr
ENST00000352480.9:c.551A>C	ENSP00000253004.6:p.Asn184Thr
ENST00000372393.7:c.551A>C	ENSP00000361469.2:p.Asn184Thr
ENST00000372394.5:c.551A>C	ENSP00000361471.1:p.Asn184Thr
ENST00000422569.5:c.551A>C	ENSP00000394212.1:p.Asn184Thr
ENST00000443588.1:c.494A>C	ENSP00000397785.1:p.Asn165Thr
ENST00000467695.5:n.260A>C
ENST00000493984.6:n.382A>C
NM_000050.4:c.551A>C	NP_000041.2:p.Asn184Thr
NM_054012.3:c.551A>C	NP_446464.1:p.Asn184Thr
XM_005272200.2:c.551A>C	XP_005272257.1:p.Asn184Thr
XM_011518705.1:c.665A>C	XP_011517007.1:p.Asn222Thr
XM_005272200.3:c.551A>C	XP_005272257.1:p.Asn184Thr
XM_011518705.2:c.665A>C	XP_011517007.1:p.Asn222Thr
XM_017014729.1:c.647A>C	XP_016870218.1:p.Asn216Thr
NM_054012.4:c.551A>C MANE Select	NP_446464.1:p.Asn184Thr