Canonical Allele Identifier: CA16041300

Gene: ASS1

Linked Data

• ClinVar Variation Id: 370237
• ClinVar RCV Id: RCV000409826 ; RCV003593953
• dbSNP Id: rs1057516339
• gnomAD v4: 9-130464159-C-T
• MyVariant Identifiers: chr9:g.133339546C>T (hg19) ; chr9:g.130464159C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130464159C>T , CM000671.2:g.130464159C>T	GRCh38
NC_000009.11:g.133339546C>T , CM000671.1:g.133339546C>T	GRCh37
NC_000009.10:g.132329367C>T	NCBI36
NG_011542.1:g.24453C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.412C>T MANE Select	ENSP00000253004.6:p.Gln138Ter
ENST00000352480.9:c.412C>T	ENSP00000253004.6:p.Gln138Ter
ENST00000372393.7:c.412C>T	ENSP00000361469.2:p.Gln138Ter
ENST00000372394.5:c.412C>T	ENSP00000361471.1:p.Gln138Ter
ENST00000422569.5:c.412C>T	ENSP00000394212.1:p.Gln138Ter
ENST00000443588.1:c.364-2566C>T	ENSP00000397785.1:n.364-2566C>T
ENST00000467695.5:n.121C>T
NM_000050.4:c.412C>T	NP_000041.2:p.Gln138Ter
NM_054012.3:c.412C>T	NP_446464.1:p.Gln138Ter
XM_005272200.2:c.412C>T	XP_005272257.1:p.Gln138Ter
XM_011518705.1:c.526C>T	XP_011517007.1:p.Gln176Ter
XM_005272200.3:c.412C>T	XP_005272257.1:p.Gln138Ter
XM_011518705.2:c.526C>T	XP_011517007.1:p.Gln176Ter
XM_017014729.1:c.508C>T	XP_016870218.1:p.Gln170Ter
NM_054012.4:c.412C>T MANE Select	NP_446464.1:p.Gln138Ter