Canonical Allele Identifier: CA2692119241

Gene: ASS1

Linked Data

• gnomAD v4: 9-130452152-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130452152G>T , CM000671.2:g.130452152G>T	GRCh38
NC_000009.11:g.133327539G>T , CM000671.1:g.133327539G>T	GRCh37
NC_000009.10:g.132317360G>T	NCBI36
NG_011542.1:g.12446G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.-5-72G>T MANE Select	ENSP00000253004.6:n.-5-72G>T
ENST00000352480.9:c.-5-72G>T	ENSP00000253004.6:n.-5-72G>T
ENST00000372393.7:c.-5-72G>T	ENSP00000361469.2:n.-5-72G>T
ENST00000372394.5:c.-5-72G>T	ENSP00000361471.1:n.-5-72G>T
ENST00000422569.5:c.-5-72G>T	ENSP00000394212.1:n.-5-72G>T
NM_000050.4:c.-5-72G>T	NP_000041.2:n.-5-72G>T
NM_054012.3:c.-5-72G>T	NP_446464.1:n.-5-72G>T
XM_005272200.2:c.-5-72G>T	XP_005272257.1:n.-5-72G>T
XM_011518705.1:c.110-72G>T	XP_011517007.1:n.110-72G>T
XM_005272200.3:c.-5-72G>T	XP_005272257.1:n.-5-72G>T
XM_011518705.2:c.110-72G>T	XP_011517007.1:n.110-72G>T
XM_017014729.1:c.92-72G>T	XP_016870218.1:n.92-72G>T
NM_054012.4:c.-5-72G>T MANE Select	NP_446464.1:n.-5-72G>T