Canonical Allele Identifier: CA5283398

Gene: ASS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130476878C>T , CM000671.2:g.130476878C>T	GRCh38
NC_000009.11:g.133352265C>T , CM000671.1:g.133352265C>T	GRCh37
NC_000009.10:g.132342086C>T	NCBI36
NG_011542.1:g.37172C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_054012.4:c.605C>T MANE Select	NP_446464.1:p.Ala202Val
ENST00000352480.10:c.605C>T MANE Select	ENSP00000253004.6:p.Ala202Val
NM_000050.4:c.605C>T	NP_000041.2:p.Ala202Val
NM_054012.3:c.605C>T	NP_446464.1:p.Ala202Val
ENST00000352480.9:c.605C>T	ENSP00000253004.6:p.Ala202Val
ENST00000372393.7:c.605C>T	ENSP00000361469.2:p.Ala202Val
ENST00000372394.5:c.605C>T	ENSP00000361471.1:p.Ala202Val
ENST00000467695.5:n.314C>T
ENST00000470849.4:n.330C>T
ENST00000492400.5:n.114C>T
ENST00000493984.6:n.436C>T
XM_005272200.2:c.605C>T	XP_005272257.1:p.Ala202Val
XM_005272200.3:c.605C>T	XP_005272257.1:p.Ala202Val
XM_011518705.1:c.719C>T	XP_011517007.1:p.Ala240Val
XM_011518705.2:c.719C>T	XP_011517007.1:p.Ala240Val
XM_017014729.1:c.701C>T	XP_016870218.1:p.Ala234Val