Canonical Allele Identifier: CA375230564

Gene: ASS1

Linked Data

• MyVariant Identifiers: chr9:g.133364776G>C (hg19) ; chr9:g.130489389G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489389G>C , CM000671.2:g.130489389G>C	GRCh38
NC_000009.11:g.133364776G>C , CM000671.1:g.133364776G>C	GRCh37
NC_000009.10:g.132354597G>C	NCBI36
NG_011542.1:g.49683G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.895G>C MANE Select	ENSP00000253004.6:p.Ala299Pro
ENST00000352480.9:c.895G>C	ENSP00000253004.6:p.Ala299Pro
ENST00000372386.6:n.166G>C
ENST00000372393.7:c.895G>C	ENSP00000361469.2:p.Ala299Pro
ENST00000372394.5:c.895G>C	ENSP00000361471.1:p.Ala299Pro
ENST00000470849.4:n.620G>C
ENST00000492400.5:n.404G>C
ENST00000493984.6:n.672G>C
NM_000050.4:c.895G>C	NP_000041.2:p.Ala299Pro
NM_054012.3:c.895G>C	NP_446464.1:p.Ala299Pro
XM_005272200.2:c.895G>C	XP_005272257.1:p.Ala299Pro
XM_011518705.1:c.1009G>C	XP_011517007.1:p.Ala337Pro
XM_005272200.3:c.895G>C	XP_005272257.1:p.Ala299Pro
XM_011518705.2:c.1009G>C	XP_011517007.1:p.Ala337Pro
XM_017014729.1:c.991G>C	XP_016870218.1:p.Ala331Pro
NM_054012.4:c.895G>C MANE Select	NP_446464.1:p.Ala299Pro