Canonical Allele Identifier: CA273302
Gene: ASS1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.130500975G>C
GRCh37 chr9:g.133376362G>C
gnomAD v2:
9:133376362 G / C
gnomAD v3:
9:130500975 G / C
gnomAD v4:
chr9-130500975-G-C
Joint Max Group AF 0.00006642 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00006873 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130500975G>C , CM000671.2:g.130500975G>C GRCh38
NC_000009.11:g.133376362G>C , CM000671.1:g.133376362G>C GRCh37
NC_000009.10:g.132366183G>C NCBI36
NG_011542.1:g.61269G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.1194-1G>C MANE Select ENSP00000253004.6:n.1194-1G>C
ENST00000352480.9:c.1194-1G>C ENSP00000253004.6:n.1194-1G>C
ENST00000372386.6:n.465-1G>C
ENST00000372393.7:c.1194-1G>C ENSP00000361469.2:n.1194-1G>C
ENST00000372394.5:c.1194-1G>C ENSP00000361471.1:n.1194-1G>C
NM_000050.4:c.1194-1G>C NP_000041.2:n.1194-1G>C
NM_054012.3:c.1194-1G>C NP_446464.1:n.1194-1G>C
XM_005272200.2:c.1194-1G>C XP_005272257.1:n.1194-1G>C
XM_011518705.1:c.1308-1G>C XP_011517007.1:n.1308-1G>C
XR_930393.1:n.892+684C>G
XM_005272200.3:c.1194-1G>C XP_005272257.1:n.1194-1G>C
XM_011518705.2:c.1308-1G>C XP_011517007.1:n.1308-1G>C
XM_017014729.1:c.1290-1G>C XP_016870218.1:n.1290-1G>C
XR_930393.2:n.934+684C>G
NM_054012.4:c.1194-1G>C MANE Select NP_446464.1:n.1194-1G>C
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