Canonical Allele Identifier: CA394297325

Gene: NTHL1

Linked Data

• dbSNP Id: rs1319706073
• MyVariant Identifiers: chr16:g.2096251C>A (hg19) ; chr16:g.2046250C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046250C>A , CM000678.2:g.2046250C>A	GRCh38
NC_000016.9:g.2096251C>A , CM000678.1:g.2096251C>A	GRCh37
NC_000016.8:g.2036252C>A	NCBI36
NG_005895.1:g.1945C>A , LRG_487:g.1945C>A
NG_008412.1:g.6617G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.232G>T MANE Select	ENSP00000498421.1:p.Val78Phe
ENST00000651583.1:c.187G>T	ENSP00000498821.1:p.Val63Phe
ENST00000219066.5:c.256G>T	ENSP00000219066.1:p.Val86Phe
ENST00000561841.1:c.152G>T
ENST00000566380.5:c.195G>T
ENST00000568513.5:c.173+30G>T
NM_002528.5:c.256G>T	NP_002519.1:p.Val86Phe
XM_011522505.1:c.256G>T	XP_011520807.1:p.Val86Phe
NM_001318193.1:c.256G>T	NP_001305122.1:p.Val86Phe
NM_001318194.1:c.24+30G>T	NP_001305123.1:n.24+30G>T
NM_002528.6:c.256G>T	NP_002519.1:p.Val86Phe
XM_017023253.1:c.256G>T	XP_016878742.1:p.Val86Phe
NM_001318193.2:c.232G>T	NP_001305122.2:p.Val78Phe
NM_002528.7:c.232G>T MANE Select	NP_002519.2:p.Val78Phe
NM_001318194.2:c.24+30G>T	NP_001305123.1:n.24+30G>T