Canonical Allele Identifier: CA370635318
Gene: NAT2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.18257685C>A (hg19) chr8:g.18400175C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400175C>A , CM000670.2:g.18400175C>A GRCh38
NC_000008.10:g.18257685C>A , CM000670.1:g.18257685C>A GRCh37
NC_000008.9:g.18301965C>A NCBI36
NG_012246.1:g.13931C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.172C>A MANE Select ENSP00000286479.3:p.His58Asn
ENST00000286479.3:c.172C>A ENSP00000286479.3:p.His58Asn
ENST00000520116.1:c.-57-162C>A ENSP00000428416.1:n.-57-162C>A
NM_000015.2:c.172C>A NP_000006.2:p.His58Asn
XM_011544358.1:c.172C>A XP_011542660.1:p.His58Asn
XM_017012938.1:c.172C>A XP_016868427.1:p.His58Asn
NM_000015.3:c.172C>A MANE Select NP_000006.2:p.His58Asn
Search 100 bp 5'
Search 100 bp 3'