Canonical Allele Identifier: CA375229437

Gene: ASS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480398G>T , CM000671.2:g.130480398G>T	GRCh38
NC_000009.11:g.133355785G>T , CM000671.1:g.133355785G>T	GRCh37
NC_000009.10:g.132345606G>T	NCBI36
NG_011542.1:g.40692G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_054012.4:c.787G>T MANE Select	NP_446464.1:p.Val263Leu
ENST00000352480.10:c.787G>T MANE Select	ENSP00000253004.6:p.Val263Leu
NM_000050.4:c.787G>T	NP_000041.2:p.Val263Leu
NM_054012.3:c.787G>T	NP_446464.1:p.Val263Leu
ENST00000352480.9:c.787G>T	ENSP00000253004.6:p.Val263Leu
ENST00000372386.6:n.58G>T
ENST00000372393.7:c.787G>T	ENSP00000361469.2:p.Val263Leu
ENST00000372394.5:c.787G>T	ENSP00000361471.1:p.Val263Leu
ENST00000470849.4:n.512G>T
ENST00000492400.5:n.296G>T
ENST00000493984.6:n.564G>T
XM_005272200.2:c.787G>T	XP_005272257.1:p.Val263Leu
XM_005272200.3:c.787G>T	XP_005272257.1:p.Val263Leu
XM_011518705.1:c.901G>T	XP_011517007.1:p.Val301Leu
XM_011518705.2:c.901G>T	XP_011517007.1:p.Val301Leu
XM_017014729.1:c.883G>T	XP_016870218.1:p.Val295Leu