Canonical Allele Identifier: CA394295096

Gene: NTHL1

Linked Data

• MyVariant Identifiers: chr16:g.2096142C>T (hg19) ; chr16:g.2046141C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046141C>T , CM000678.2:g.2046141C>T	GRCh38
NC_000016.9:g.2096142C>T , CM000678.1:g.2096142C>T	GRCh37
NC_000016.8:g.2036143C>T	NCBI36
NG_005895.1:g.1836C>T , LRG_487:g.1836C>T
NG_008412.1:g.6726G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000651522.1:c.50G>A	ENSP00000498290.1:p.Ser17Asn
ENST00000651570.2:c.341G>A MANE Select	ENSP00000498421.1:p.Ser114Asn
ENST00000651583.1:c.296G>A	ENSP00000498821.1:p.Ser99Asn
ENST00000219066.5:c.365G>A	ENSP00000219066.1:p.Ser122Asn
ENST00000561841.1:c.261G>A
ENST00000562120.1:n.74G>A
ENST00000566380.5:c.304G>A
ENST00000568513.5:c.173+139G>A
NM_002528.5:c.365G>A	NP_002519.1:p.Ser122Asn
XM_011522505.1:c.365G>A	XP_011520807.1:p.Ser122Asn
NM_001318193.1:c.365G>A	NP_001305122.1:p.Ser122Asn
NM_001318194.1:c.24+139G>A	NP_001305123.1:n.24+139G>A
NM_002528.6:c.365G>A	NP_002519.1:p.Ser122Asn
XM_017023253.1:c.365G>A	XP_016878742.1:p.Ser122Asn
NM_001318193.2:c.341G>A	NP_001305122.2:p.Ser114Asn
NM_002528.7:c.341G>A MANE Select	NP_002519.2:p.Ser114Asn
NM_001318194.2:c.24+139G>A	NP_001305123.1:n.24+139G>A