Canonical Allele Identifier: CA2692119242

Gene: ASS1

Linked Data

• gnomAD v4: 9-130452154-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130452154T>C , CM000671.2:g.130452154T>C	GRCh38
NC_000009.11:g.133327541T>C , CM000671.1:g.133327541T>C	GRCh37
NC_000009.10:g.132317362T>C	NCBI36
NG_011542.1:g.12448T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.-5-70T>C MANE Select	ENSP00000253004.6:n.-5-70T>C
ENST00000352480.9:c.-5-70T>C	ENSP00000253004.6:n.-5-70T>C
ENST00000372393.7:c.-5-70T>C	ENSP00000361469.2:n.-5-70T>C
ENST00000372394.5:c.-5-70T>C	ENSP00000361471.1:n.-5-70T>C
ENST00000422569.5:c.-5-70T>C	ENSP00000394212.1:n.-5-70T>C
NM_000050.4:c.-5-70T>C	NP_000041.2:n.-5-70T>C
NM_054012.3:c.-5-70T>C	NP_446464.1:n.-5-70T>C
XM_005272200.2:c.-5-70T>C	XP_005272257.1:n.-5-70T>C
XM_011518705.1:c.110-70T>C	XP_011517007.1:n.110-70T>C
XM_005272200.3:c.-5-70T>C	XP_005272257.1:n.-5-70T>C
XM_011518705.2:c.110-70T>C	XP_011517007.1:n.110-70T>C
XM_017014729.1:c.92-70T>C	XP_016870218.1:n.92-70T>C
NM_054012.4:c.-5-70T>C MANE Select	NP_446464.1:n.-5-70T>C