Canonical Allele Identifier: CA16041297
Gene: ASS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371044
ClinVar RCV Id: RCV000411464
dbSNP Id: rs1057516960

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130452231G>A , CM000671.2:g.130452231G>A GRCh38
NC_000009.11:g.133327618G>A , CM000671.1:g.133327618G>A GRCh37
NC_000009.10:g.132317439G>A NCBI36
NG_011542.1:g.12525G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000352480.10:c.3G>A
ENST00000352480.9:c.3G>A
ENST00000372393.7:c.3G>A
ENST00000372394.5:c.3G>A
ENST00000422569.5:c.3G>A
ENST00000443588.1:c.3G>A
NM_000050.4:c.3G>A
NM_054012.3:c.3G>A
XM_005272200.2:c.3G>A
XM_011518705.1:c.117G>A XP_011517007.1:p.Met39Ile
XM_005272200.3:c.3G>A
XM_011518705.2:c.117G>A XP_011517007.1:p.Met39Ile
XM_017014729.1:c.99G>A XP_016870218.1:p.Met33Ile
NM_054012.4:c.3G>A