Canonical Allele Identifier: CA375229522

Gene: ASS1

Linked Data

• MyVariant Identifiers: chr9:g.133355826G>C (hg19) ; chr9:g.130480439G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480439G>C , CM000671.2:g.130480439G>C	GRCh38
NC_000009.11:g.133355826G>C , CM000671.1:g.133355826G>C	GRCh37
NC_000009.10:g.132345647G>C	NCBI36
NG_011542.1:g.40733G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.828G>C MANE Select	ENSP00000253004.6:p.Met276Ile
ENST00000352480.9:c.828G>C	ENSP00000253004.6:p.Met276Ile
ENST00000372386.6:n.99G>C
ENST00000372393.7:c.828G>C	ENSP00000361469.2:p.Met276Ile
ENST00000372394.5:c.828G>C	ENSP00000361471.1:p.Met276Ile
ENST00000470849.4:n.553G>C
ENST00000492400.5:n.337G>C
ENST00000493984.6:n.605G>C
NM_000050.4:c.828G>C	NP_000041.2:p.Met276Ile
NM_054012.3:c.828G>C	NP_446464.1:p.Met276Ile
XM_005272200.2:c.828G>C	XP_005272257.1:p.Met276Ile
XM_011518705.1:c.942G>C	XP_011517007.1:p.Met314Ile
XM_005272200.3:c.828G>C	XP_005272257.1:p.Met276Ile
XM_011518705.2:c.942G>C	XP_011517007.1:p.Met314Ile
XM_017014729.1:c.924G>C	XP_016870218.1:p.Met308Ile
NM_054012.4:c.828G>C MANE Select	NP_446464.1:p.Met276Ile