Canonical Allele Identifier: CA4651661
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs45607939
ExAC: 8:18258126 A / T
gnomAD v2: 8-18258126-A-T
gnomAD v3: 8-18400616-A-T
gnomAD v4: 8-18400616-A-T
MyVariant Identifiers: chr8:g.18258126A>T (hg19) chr8:g.18400616A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400616A>T , CM000670.2:g.18400616A>T GRCh38
NC_000008.10:g.18258126A>T , CM000670.1:g.18258126A>T GRCh37
NC_000008.9:g.18302406A>T NCBI36
NG_012246.1:g.14372A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.613A>T MANE Select ENSP00000286479.3:p.Met205Leu
ENST00000286479.3:c.613A>T ENSP00000286479.3:p.Met205Leu
ENST00000520116.1:c.223A>T ENSP00000428416.1:p.Met75Leu
NM_000015.2:c.613A>T NP_000006.2:p.Met205Leu
XM_011544358.1:c.613A>T XP_011542660.1:p.Met205Leu
XM_017012938.1:c.613A>T XP_016868427.1:p.Met205Leu
NM_000015.3:c.613A>T MANE Select NP_000006.2:p.Met205Leu
Search 100 bp 5'
Search 100 bp 3'