Canonical Allele Identifier: CA173519075
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs529994417
gnomAD v3: 8-18393644-G-A
gnomAD v4: 8-18393644-G-A
MyVariant Identifiers: chr8:g.18251154G>A (hg19) chr8:g.18393644G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18393644G>A , CM000670.2:g.18393644G>A GRCh38
NC_000008.10:g.18251154G>A , CM000670.1:g.18251154G>A GRCh37
NC_000008.9:g.18295434G>A NCBI36
NG_012246.1:g.7400G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.-7+2299G>A MANE Select ENSP00000286479.3:n.-7+2299G>A
ENST00000286479.3:c.-7+2299G>A ENSP00000286479.3:n.-7+2299G>A
ENST00000520116.1:c.-58+2299G>A ENSP00000428416.1:n.-58+2299G>A
NM_000015.2:c.-7+2299G>A NP_000006.2:n.-7+2299G>A
XM_011544358.1:c.-7+908G>A XP_011542660.1:n.-7+908G>A
XM_017012938.1:c.-6-6354G>A XP_016868427.1:n.-6-6354G>A
NM_000015.3:c.-7+2299G>A MANE Select NP_000006.2:n.-7+2299G>A
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