Canonical Allele Identifier: CA394298046

Gene: NTHL1

Linked Data

• MyVariant Identifiers: chr16:g.2096352T>A (hg19) ; chr16:g.2046351T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046351T>A , CM000678.2:g.2046351T>A	GRCh38
NC_000016.9:g.2096352T>A , CM000678.1:g.2096352T>A	GRCh37
NC_000016.8:g.2036353T>A	NCBI36
NG_005895.1:g.2046T>A , LRG_487:g.2046T>A
NG_008412.1:g.6516A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.131A>T MANE Select	ENSP00000498421.1:p.His44Leu
ENST00000651583.1:c.86A>T	ENSP00000498821.1:p.His29Leu
ENST00000219066.5:c.155A>T	ENSP00000219066.1:p.His52Leu
ENST00000561841.1:c.51A>T
ENST00000566380.5:c.94A>T
ENST00000568513.5:c.102A>T
NM_002528.5:c.155A>T	NP_002519.1:p.His52Leu
XM_011522505.1:c.155A>T	XP_011520807.1:p.His52Leu
NM_001318193.1:c.155A>T	NP_001305122.1:p.His52Leu
NM_001318194.1:c.-48A>T	NP_001305123.1:n.-48A>T
NM_002528.6:c.155A>T	NP_002519.1:p.His52Leu
XM_017023253.1:c.155A>T	XP_016878742.1:p.His52Leu
NM_001318193.2:c.131A>T	NP_001305122.2:p.His44Leu
NM_002528.7:c.131A>T MANE Select	NP_002519.2:p.His44Leu
NM_001318194.2:c.-48A>T	NP_001305123.1:n.-48A>T