Canonical Allele Identifier: CA492953327

Gene: NTHL1

Linked Data

• MyVariant Identifiers: chr16:g.2096255C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046254C>A , CM000678.2:g.2046254C>A	GRCh38
NC_000016.9:g.2096255C>A , CM000678.1:g.2096255C>A	GRCh37
NC_000016.8:g.2036256C>A	NCBI36
NG_005895.1:g.1949C>A , LRG_487:g.1949C>A
NG_008412.1:g.6613G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.228G>T MANE Select	ENSP00000498421.1:p.Val76=
ENST00000651583.1:c.183G>T	ENSP00000498821.1:p.Val61=
ENST00000219066.5:c.252G>T	ENSP00000219066.1:p.Val84=
ENST00000561841.1:c.148G>T
ENST00000566380.5:c.191G>T
ENST00000568513.5:c.173+26G>T
NM_002528.5:c.252G>T	NP_002519.1:p.Val84=
XM_011522505.1:c.252G>T	XP_011520807.1:p.Val84=
NM_001318193.1:c.252G>T	NP_001305122.1:p.Val84=
NM_001318194.1:c.24+26G>T	NP_001305123.1:n.24+26G>T
NM_002528.6:c.252G>T	NP_002519.1:p.Val84=
XM_017023253.1:c.252G>T	XP_016878742.1:p.Val84=
NM_001318193.2:c.228G>T	NP_001305122.2:p.Val76=
NM_002528.7:c.228G>T MANE Select	NP_002519.2:p.Val76=
NM_001318194.2:c.24+26G>T	NP_001305123.1:n.24+26G>T