Canonical Allele Identifier: CA394295072

Gene: NTHL1

Linked Data

• MyVariant Identifiers: chr16:g.2096137G>C (hg19) ; chr16:g.2046136G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046136G>C , CM000678.2:g.2046136G>C	GRCh38
NC_000016.9:g.2096137G>C , CM000678.1:g.2096137G>C	GRCh37
NC_000016.8:g.2036138G>C	NCBI36
NG_005895.1:g.1831G>C , LRG_487:g.1831G>C
NG_008412.1:g.6731C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651522.1:c.55C>G	ENSP00000498290.1:p.Pro19Ala
ENST00000651570.2:c.346C>G MANE Select	ENSP00000498421.1:p.Pro116Ala
ENST00000651583.1:c.301C>G	ENSP00000498821.1:p.Pro101Ala
ENST00000219066.5:c.370C>G	ENSP00000219066.1:p.Pro124Ala
ENST00000561841.1:c.266C>G
ENST00000562120.1:n.79C>G
ENST00000566380.5:c.309C>G
ENST00000568513.5:c.173+144C>G
NM_002528.5:c.370C>G	NP_002519.1:p.Pro124Ala
XM_011522505.1:c.370C>G	XP_011520807.1:p.Pro124Ala
NM_001318193.1:c.370C>G	NP_001305122.1:p.Pro124Ala
NM_001318194.1:c.24+144C>G	NP_001305123.1:n.24+144C>G
NM_002528.6:c.370C>G	NP_002519.1:p.Pro124Ala
XM_017023253.1:c.370C>G	XP_016878742.1:p.Pro124Ala
NM_001318193.2:c.346C>G	NP_001305122.2:p.Pro116Ala
NM_002528.7:c.346C>G MANE Select	NP_002519.2:p.Pro116Ala
NM_001318194.2:c.24+144C>G	NP_001305123.1:n.24+144C>G