Canonical Allele Identifier: CA590703532

Gene: ASS1

Linked Data

• dbSNP Id: rs150904366
• gnomAD v2: 9-133327396-G-C
• gnomAD v4: 9-130452009-G-C
• MyVariant Identifiers: chr9:g.133327396G>C (hg19) ; chr9:g.130452009G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130452009G>C , CM000671.2:g.130452009G>C	GRCh38
NC_000009.11:g.133327396G>C , CM000671.1:g.133327396G>C	GRCh37
NC_000009.10:g.132317217G>C	NCBI36
NG_011542.1:g.12303G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.-5-215G>C MANE Select	ENSP00000253004.6:n.-5-215G>C
ENST00000352480.9:c.-5-215G>C	ENSP00000253004.6:n.-5-215G>C
ENST00000372393.7:c.-5-215G>C	ENSP00000361469.2:n.-5-215G>C
ENST00000372394.5:c.-40G>C	ENSP00000361471.1:n.-40G>C
ENST00000422569.5:c.-5-215G>C	ENSP00000394212.1:n.-5-215G>C
NM_000050.4:c.-5-215G>C	NP_000041.2:n.-5-215G>C
NM_054012.3:c.-5-215G>C	NP_446464.1:n.-5-215G>C
XM_005272200.2:c.-5-215G>C	XP_005272257.1:n.-5-215G>C
XM_011518705.1:c.110-215G>C	XP_011517007.1:n.110-215G>C
XM_005272200.3:c.-5-215G>C	XP_005272257.1:n.-5-215G>C
XM_011518705.2:c.110-215G>C	XP_011517007.1:n.110-215G>C
XM_017014729.1:c.92-215G>C	XP_016870218.1:n.92-215G>C
NM_054012.4:c.-5-215G>C MANE Select	NP_446464.1:n.-5-215G>C