Canonical Allele Identifier: CA276765616

Gene: NTHL1

Linked Data

• dbSNP Id: rs74624206
• MyVariant Identifiers: chr16:g.2096203T>G (hg19) ; chr16:g.2046202T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046202T>G , CM000678.2:g.2046202T>G	GRCh38
NC_000016.9:g.2096203T>G , CM000678.1:g.2096203T>G	GRCh37
NC_000016.8:g.2036204T>G	NCBI36
NG_005895.1:g.1897T>G , LRG_487:g.1897T>G
NG_008412.1:g.6665A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.280A>C MANE Select	ENSP00000498421.1:p.Met94Leu
ENST00000651583.1:c.235A>C	ENSP00000498821.1:p.Met79Leu
ENST00000219066.5:c.304A>C	ENSP00000219066.1:p.Met102Leu
ENST00000561841.1:c.200A>C
ENST00000562120.1:n.13A>C
ENST00000566380.5:c.243A>C
ENST00000568513.5:c.173+78A>C
NM_002528.5:c.304A>C	NP_002519.1:p.Met102Leu
XM_011522505.1:c.304A>C	XP_011520807.1:p.Met102Leu
NM_001318193.1:c.304A>C	NP_001305122.1:p.Met102Leu
NM_001318194.1:c.24+78A>C	NP_001305123.1:n.24+78A>C
NM_002528.6:c.304A>C	NP_002519.1:p.Met102Leu
XM_017023253.1:c.304A>C	XP_016878742.1:p.Met102Leu
NM_001318193.2:c.280A>C	NP_001305122.2:p.Met94Leu
NM_002528.7:c.280A>C MANE Select	NP_002519.2:p.Met94Leu
NM_001318194.2:c.24+78A>C	NP_001305123.1:n.24+78A>C