Canonical Allele Identifier: CA394295077

Gene: NTHL1

Linked Data

• MyVariant Identifiers: chr16:g.2096139G>C (hg19) ; chr16:g.2046138G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046138G>C , CM000678.2:g.2046138G>C	GRCh38
NC_000016.9:g.2096139G>C , CM000678.1:g.2096139G>C	GRCh37
NC_000016.8:g.2036140G>C	NCBI36
NG_005895.1:g.1833G>C , LRG_487:g.1833G>C
NG_008412.1:g.6729C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000651522.1:c.53C>G	ENSP00000498290.1:p.Ala18Gly
ENST00000651570.2:c.344C>G MANE Select	ENSP00000498421.1:p.Ala115Gly
ENST00000651583.1:c.299C>G	ENSP00000498821.1:p.Ala100Gly
ENST00000219066.5:c.368C>G	ENSP00000219066.1:p.Ala123Gly
ENST00000561841.1:c.264C>G
ENST00000562120.1:n.77C>G
ENST00000566380.5:c.307C>G
ENST00000568513.5:c.173+142C>G
NM_002528.5:c.368C>G	NP_002519.1:p.Ala123Gly
XM_011522505.1:c.368C>G	XP_011520807.1:p.Ala123Gly
NM_001318193.1:c.368C>G	NP_001305122.1:p.Ala123Gly
NM_001318194.1:c.24+142C>G	NP_001305123.1:n.24+142C>G
NM_002528.6:c.368C>G	NP_002519.1:p.Ala123Gly
XM_017023253.1:c.368C>G	XP_016878742.1:p.Ala123Gly
NM_001318193.2:c.344C>G	NP_001305122.2:p.Ala115Gly
NM_002528.7:c.344C>G MANE Select	NP_002519.2:p.Ala115Gly
NM_001318194.2:c.24+142C>G	NP_001305123.1:n.24+142C>G