Canonical Allele Identifier: CA394295088

Gene: NTHL1

Linked Data

• MyVariant Identifiers: chr16:g.2096140C>A (hg19) ; chr16:g.2046139C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046139C>A , CM000678.2:g.2046139C>A	GRCh38
NC_000016.9:g.2096140C>A , CM000678.1:g.2096140C>A	GRCh37
NC_000016.8:g.2036141C>A	NCBI36
NG_005895.1:g.1834C>A , LRG_487:g.1834C>A
NG_008412.1:g.6728G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000651522.1:c.52G>T	ENSP00000498290.1:p.Ala18Ser
ENST00000651570.2:c.343G>T MANE Select	ENSP00000498421.1:p.Ala115Ser
ENST00000651583.1:c.298G>T	ENSP00000498821.1:p.Ala100Ser
ENST00000219066.5:c.367G>T	ENSP00000219066.1:p.Ala123Ser
ENST00000561841.1:c.263G>T
ENST00000562120.1:n.76G>T
ENST00000566380.5:c.306G>T
ENST00000568513.5:c.173+141G>T
NM_002528.5:c.367G>T	NP_002519.1:p.Ala123Ser
XM_011522505.1:c.367G>T	XP_011520807.1:p.Ala123Ser
NM_001318193.1:c.367G>T	NP_001305122.1:p.Ala123Ser
NM_001318194.1:c.24+141G>T	NP_001305123.1:n.24+141G>T
NM_002528.6:c.367G>T	NP_002519.1:p.Ala123Ser
XM_017023253.1:c.367G>T	XP_016878742.1:p.Ala123Ser
NM_001318193.2:c.343G>T	NP_001305122.2:p.Ala115Ser
NM_002528.7:c.343G>T MANE Select	NP_002519.2:p.Ala115Ser
NM_001318194.2:c.24+141G>T	NP_001305123.1:n.24+141G>T