Canonical Allele Identifier: CA4651681
Gene: NAT2 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.18400709G>A
GRCh37 chr8:g.18258219G>A
Revel Score:
ENST00000286479 (MANE Select) 0.388
ENST00000520116 0.388
gnomAD v2:
8:18258219 G / A
gnomAD v3:
8:18400709 G / A
gnomAD v4:
chr8-18400709-G-A
Joint Max Group AF 0.00000365 (SAS)
Exomes Max Group AF 0.00000385 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400709G>A , CM000670.2:g.18400709G>A GRCh38
NC_000008.10:g.18258219G>A , CM000670.1:g.18258219G>A GRCh37
NC_000008.9:g.18302499G>A NCBI36
NG_012246.1:g.14465G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.706G>A MANE Select ENSP00000286479.3:p.Gly236Ser
ENST00000286479.3:c.706G>A ENSP00000286479.3:p.Gly236Ser
ENST00000520116.1:c.316G>A ENSP00000428416.1:p.Gly106Ser
NM_000015.2:c.706G>A NP_000006.2:p.Gly236Ser
XM_011544358.1:c.706G>A XP_011542660.1:p.Gly236Ser
XM_017012938.1:c.706G>A XP_016868427.1:p.Gly236Ser
NM_000015.3:c.706G>A MANE Select NP_000006.2:p.Gly236Ser
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