Canonical Allele Identifier: CA394298044

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 2880126
• ClinVar RCV Id: RCV003713140
• gnomAD v4: 16-2046350-G-T
• MyVariant Identifiers: chr16:g.2096351G>T (hg19) ; chr16:g.2046350G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046350G>T , CM000678.2:g.2046350G>T	GRCh38
NC_000016.9:g.2096351G>T , CM000678.1:g.2096351G>T	GRCh37
NC_000016.8:g.2036352G>T	NCBI36
NG_005895.1:g.2045G>T , LRG_487:g.2045G>T
NG_008412.1:g.6517C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.132C>A MANE Select	ENSP00000498421.1:p.His44Gln
ENST00000651583.1:c.87C>A	ENSP00000498821.1:p.His29Gln
ENST00000219066.5:c.156C>A	ENSP00000219066.1:p.His52Gln
ENST00000561841.1:c.52C>A
ENST00000566380.5:c.95C>A
ENST00000568513.5:c.103C>A
NM_002528.5:c.156C>A	NP_002519.1:p.His52Gln
XM_011522505.1:c.156C>A	XP_011520807.1:p.His52Gln
NM_001318193.1:c.156C>A	NP_001305122.1:p.His52Gln
NM_001318194.1:c.-47C>A	NP_001305123.1:n.-47C>A
NM_002528.6:c.156C>A	NP_002519.1:p.His52Gln
XM_017023253.1:c.156C>A	XP_016878742.1:p.His52Gln
NM_001318193.2:c.132C>A	NP_001305122.2:p.His44Gln
NM_002528.7:c.132C>A MANE Select	NP_002519.2:p.His44Gln
NM_001318194.2:c.-47C>A	NP_001305123.1:n.-47C>A