Canonical Allele Identifier: CA375227223
Gene: ASS1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.130470877G>T
GRCh37 chr9:g.133346264G>T
Revel Score:
ENST00000334909 0.963
ENST00000352480 (MANE Select) 0.963
ENST00000372394 0.963
ENST00000372393 0.963
ENST00000422569 0.963
ENST00000443588 0.963
gnomAD v2:
9:133346264 G / T
gnomAD v3:
9:130470877 G / T
gnomAD v4:
chr9-130470877-G-T
Joint Max Group AF 0.00001327 (AMR)
Genomes Max Group AF 0.00002261 (AMR)
ClinVar Allele:
458935
ClinVar RCV:
RCV000529881
RCV001376549
RCV002254300
ClinVar Variation:
458674
dbSNP:
121908638
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130470877G>T , CM000671.2:g.130470877G>T GRCh38
NC_000009.11:g.133346264G>T , CM000671.1:g.133346264G>T GRCh37
NC_000009.10:g.132336085G>T NCBI36
NG_011542.1:g.31171G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.539G>T MANE Select ENSP00000253004.6:p.Ser180Ile
ENST00000352480.9:c.539G>T ENSP00000253004.6:p.Ser180Ile
ENST00000372393.7:c.539G>T ENSP00000361469.2:p.Ser180Ile
ENST00000372394.5:c.539G>T ENSP00000361471.1:p.Ser180Ile
ENST00000422569.5:c.539G>T ENSP00000394212.1:p.Ser180Ile
ENST00000443588.1:c.482G>T ENSP00000397785.1:p.Ser161Ile
ENST00000467695.5:n.248G>T
ENST00000493984.6:n.370G>T
NM_000050.4:c.539G>T NP_000041.2:p.Ser180Ile
NM_054012.3:c.539G>T NP_446464.1:p.Ser180Ile
XM_005272200.2:c.539G>T XP_005272257.1:p.Ser180Ile
XM_011518705.1:c.653G>T XP_011517007.1:p.Ser218Ile
XM_005272200.3:c.539G>T XP_005272257.1:p.Ser180Ile
XM_011518705.2:c.653G>T XP_011517007.1:p.Ser218Ile
XM_017014729.1:c.635G>T XP_016870218.1:p.Ser212Ile
NM_054012.4:c.539G>T MANE Select NP_446464.1:p.Ser180Ile
Search 100 bp 5'
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