Canonical Allele Identifier: CA394297587

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 3011751
• ClinVar RCV Id: RCV003872814
• dbSNP Id: rs2150946747
• MyVariant Identifiers: chr16:g.2096281C>T (hg19) ; chr16:g.2046280C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046280C>T , CM000678.2:g.2046280C>T	GRCh38
NC_000016.9:g.2096281C>T , CM000678.1:g.2096281C>T	GRCh37
NC_000016.8:g.2036282C>T	NCBI36
NG_005895.1:g.1975C>T , LRG_487:g.1975C>T
NG_008412.1:g.6587G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.202G>A MANE Select	ENSP00000498421.1:p.Gly68Ser
ENST00000651583.1:c.157G>A	ENSP00000498821.1:p.Gly53Ser
ENST00000219066.5:c.226G>A	ENSP00000219066.1:p.Gly76Ser
ENST00000561841.1:c.122G>A
ENST00000566380.5:c.165G>A
ENST00000568513.5:c.173G>A
NM_002528.5:c.226G>A	NP_002519.1:p.Gly76Ser
XM_011522505.1:c.226G>A	XP_011520807.1:p.Gly76Ser
NM_001318193.1:c.226G>A	NP_001305122.1:p.Gly76Ser
NM_001318194.1:c.24G>A	NP_001305123.1:p.Lys8=
NM_002528.6:c.226G>A	NP_002519.1:p.Gly76Ser
XM_017023253.1:c.226G>A	XP_016878742.1:p.Gly76Ser
NM_001318193.2:c.202G>A	NP_001305122.2:p.Gly68Ser
NM_002528.7:c.202G>A MANE Select	NP_002519.2:p.Gly68Ser
NM_001318194.2:c.24G>A	NP_001305123.1:p.Lys8=