Canonical Allele Identifier: CA5283207

Gene: ASS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130458471T>C , CM000671.2:g.130458471T>C	GRCh38
NC_000009.11:g.133333858T>C , CM000671.1:g.133333858T>C	GRCh37
NC_000009.10:g.132323679T>C	NCBI36
NG_011542.1:g.18765T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_054012.4:c.245T>C MANE Select	NP_446464.1:p.Leu82Pro
ENST00000352480.10:c.245T>C MANE Select	ENSP00000253004.6:p.Leu82Pro
NM_000050.4:c.245T>C	NP_000041.2:p.Leu82Pro
NM_054012.3:c.245T>C	NP_446464.1:p.Leu82Pro
ENST00000352480.9:c.245T>C	ENSP00000253004.6:p.Leu82Pro
ENST00000372393.7:c.245T>C	ENSP00000361469.2:p.Leu82Pro
ENST00000372394.5:c.245T>C	ENSP00000361471.1:p.Leu82Pro
ENST00000422569.5:c.245T>C	ENSP00000394212.1:p.Leu82Pro
ENST00000443588.1:c.245T>C	ENSP00000397785.1:p.Leu82Pro
XM_005272200.2:c.245T>C	XP_005272257.1:p.Leu82Pro
XM_005272200.3:c.245T>C	XP_005272257.1:p.Leu82Pro
XM_011518705.1:c.359T>C	XP_011517007.1:p.Leu120Pro
XM_011518705.2:c.359T>C	XP_011517007.1:p.Leu120Pro
XM_017014729.1:c.341T>C	XP_016870218.1:p.Leu114Pro