Canonical Allele Identifier: CA375227231

Gene: ASS1

Linked Data

• MyVariant Identifiers: chr9:g.133346266A>C (hg19) ; chr9:g.130470879A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130470879A>C , CM000671.2:g.130470879A>C	GRCh38
NC_000009.11:g.133346266A>C , CM000671.1:g.133346266A>C	GRCh37
NC_000009.10:g.132336087A>C	NCBI36
NG_011542.1:g.31173A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.541A>C MANE Select	ENSP00000253004.6:p.Met181Leu
ENST00000352480.9:c.541A>C	ENSP00000253004.6:p.Met181Leu
ENST00000372393.7:c.541A>C	ENSP00000361469.2:p.Met181Leu
ENST00000372394.5:c.541A>C	ENSP00000361471.1:p.Met181Leu
ENST00000422569.5:c.541A>C	ENSP00000394212.1:p.Met181Leu
ENST00000443588.1:c.484A>C	ENSP00000397785.1:p.Met162Leu
ENST00000467695.5:n.250A>C
ENST00000493984.6:n.372A>C
NM_000050.4:c.541A>C	NP_000041.2:p.Met181Leu
NM_054012.3:c.541A>C	NP_446464.1:p.Met181Leu
XM_005272200.2:c.541A>C	XP_005272257.1:p.Met181Leu
XM_011518705.1:c.655A>C	XP_011517007.1:p.Met219Leu
XM_005272200.3:c.541A>C	XP_005272257.1:p.Met181Leu
XM_011518705.2:c.655A>C	XP_011517007.1:p.Met219Leu
XM_017014729.1:c.637A>C	XP_016870218.1:p.Met213Leu
NM_054012.4:c.541A>C MANE Select	NP_446464.1:p.Met181Leu