Canonical Allele Identifier: CA394297088

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 1475099
• ClinVar RCV Id: RCV001973869
• dbSNP Id: rs369262985
• MyVariant Identifiers: chr16:g.2096226T>A (hg19) ; chr16:g.2046225T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046225T>A , CM000678.2:g.2046225T>A	GRCh38
NC_000016.9:g.2096226T>A , CM000678.1:g.2096226T>A	GRCh37
NC_000016.8:g.2036227T>A	NCBI36
NG_005895.1:g.1920T>A , LRG_487:g.1920T>A
NG_008412.1:g.6642A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.257A>T MANE Select	ENSP00000498421.1:p.Gln86Leu
ENST00000651583.1:c.212A>T	ENSP00000498821.1:p.Gln71Leu
ENST00000219066.5:c.281A>T	ENSP00000219066.1:p.Gln94Leu
ENST00000561841.1:c.177A>T
ENST00000566380.5:c.220A>T
ENST00000568513.5:c.173+55A>T
NM_002528.5:c.281A>T	NP_002519.1:p.Gln94Leu
XM_011522505.1:c.281A>T	XP_011520807.1:p.Gln94Leu
NM_001318193.1:c.281A>T	NP_001305122.1:p.Gln94Leu
NM_001318194.1:c.24+55A>T	NP_001305123.1:n.24+55A>T
NM_002528.6:c.281A>T	NP_002519.1:p.Gln94Leu
XM_017023253.1:c.281A>T	XP_016878742.1:p.Gln94Leu
NM_001318193.2:c.257A>T	NP_001305122.2:p.Gln86Leu
NM_002528.7:c.257A>T MANE Select	NP_002519.2:p.Gln86Leu
NM_001318194.2:c.24+55A>T	NP_001305123.1:n.24+55A>T