Canonical Allele Identifier: CA394296854

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 1517306
• ClinVar RCV Id: RCV002027257 ; RCV004046883
• dbSNP Id: rs2150945858
• gnomAD v4: 16-2046211-T-C
• MyVariant Identifiers: chr16:g.2096212T>C (hg19) ; chr16:g.2046211T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046211T>C , CM000678.2:g.2046211T>C	GRCh38
NC_000016.9:g.2096212T>C , CM000678.1:g.2096212T>C	GRCh37
NC_000016.8:g.2036213T>C	NCBI36
NG_005895.1:g.1906T>C , LRG_487:g.1906T>C
NG_008412.1:g.6656A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.271A>G MANE Select	ENSP00000498421.1:p.Ile91Val
ENST00000651583.1:c.226A>G	ENSP00000498821.1:p.Ile76Val
ENST00000219066.5:c.295A>G	ENSP00000219066.1:p.Ile99Val
ENST00000561841.1:c.191A>G
ENST00000562120.1:n.4A>G
ENST00000566380.5:c.234A>G
ENST00000568513.5:c.173+69A>G
NM_002528.5:c.295A>G	NP_002519.1:p.Ile99Val
XM_011522505.1:c.295A>G	XP_011520807.1:p.Ile99Val
NM_001318193.1:c.295A>G	NP_001305122.1:p.Ile99Val
NM_001318194.1:c.24+69A>G	NP_001305123.1:n.24+69A>G
NM_002528.6:c.295A>G	NP_002519.1:p.Ile99Val
XM_017023253.1:c.295A>G	XP_016878742.1:p.Ile99Val
NM_001318193.2:c.271A>G	NP_001305122.2:p.Ile91Val
NM_002528.7:c.271A>G MANE Select	NP_002519.2:p.Ile91Val
NM_001318194.2:c.24+69A>G	NP_001305123.1:n.24+69A>G