Canonical Allele Identifier: CA375230706

Gene: ASS1

Linked Data

• MyVariant Identifiers: chr9:g.133364814A>C (hg19) ; chr9:g.130489427A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489427A>C , CM000671.2:g.130489427A>C	GRCh38
NC_000009.11:g.133364814A>C , CM000671.1:g.133364814A>C	GRCh37
NC_000009.10:g.132354635A>C	NCBI36
NG_011542.1:g.49721A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.933A>C MANE Select	ENSP00000253004.6:p.Gln311His
ENST00000352480.9:c.933A>C	ENSP00000253004.6:p.Gln311His
ENST00000372386.6:n.204A>C
ENST00000372393.7:c.933A>C	ENSP00000361469.2:p.Gln311His
ENST00000372394.5:c.933A>C	ENSP00000361471.1:p.Gln311His
ENST00000492400.5:n.442A>C
NM_000050.4:c.933A>C	NP_000041.2:p.Gln311His
NM_054012.3:c.933A>C	NP_446464.1:p.Gln311His
XM_005272200.2:c.933A>C	XP_005272257.1:p.Gln311His
XM_011518705.1:c.1047A>C	XP_011517007.1:p.Gln349His
XM_005272200.3:c.933A>C	XP_005272257.1:p.Gln311His
XM_011518705.2:c.1047A>C	XP_011517007.1:p.Gln349His
XM_017014729.1:c.1029A>C	XP_016870218.1:p.Gln343His
NM_054012.4:c.933A>C MANE Select	NP_446464.1:p.Gln311His