Canonical Allele Identifier: CA375227456

Gene: ASS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130471489G>C , CM000671.2:g.130471489G>C	GRCh38
NC_000009.11:g.133346876G>C , CM000671.1:g.133346876G>C	GRCh37
NC_000009.10:g.132336697G>C	NCBI36
NG_011542.1:g.31783G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_054012.4:c.571G>C MANE Select	NP_446464.1:p.Glu191Gln
ENST00000352480.10:c.571G>C MANE Select	ENSP00000253004.6:p.Glu191Gln
NM_000050.4:c.571G>C	NP_000041.2:p.Glu191Gln
NM_054012.3:c.571G>C	NP_446464.1:p.Glu191Gln
ENST00000352480.9:c.571G>C	ENSP00000253004.6:p.Glu191Gln
ENST00000372393.7:c.571G>C	ENSP00000361469.2:p.Glu191Gln
ENST00000372394.5:c.571G>C	ENSP00000361471.1:p.Glu191Gln
ENST00000422569.5:c.571G>C	ENSP00000394212.1:p.Glu191Gln
ENST00000443588.1:c.514G>C	ENSP00000397785.1:p.Glu172Gln
ENST00000467695.5:n.280G>C
ENST00000493984.6:n.402G>C
XM_005272200.2:c.571G>C	XP_005272257.1:p.Glu191Gln
XM_005272200.3:c.571G>C	XP_005272257.1:p.Glu191Gln
XM_011518705.1:c.685G>C	XP_011517007.1:p.Glu229Gln
XM_011518705.2:c.685G>C	XP_011517007.1:p.Glu229Gln
XM_017014729.1:c.667G>C	XP_016870218.1:p.Glu223Gln