Canonical Allele Identifier: CA492953245

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 2032042
• ClinVar RCV Id: RCV002876691 ; RCV003308312
• MyVariant Identifiers: chr16:g.2096195G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046194G>A , CM000678.2:g.2046194G>A	GRCh38
NC_000016.9:g.2096195G>A , CM000678.1:g.2096195G>A	GRCh37
NC_000016.8:g.2036196G>A	NCBI36
NG_005895.1:g.1889G>A , LRG_487:g.1889G>A
NG_008412.1:g.6673C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.288C>T MANE Select	ENSP00000498421.1:p.Asn96=
ENST00000651583.1:c.243C>T	ENSP00000498821.1:p.Asn81=
ENST00000219066.5:c.312C>T	ENSP00000219066.1:p.Asn104=
ENST00000561841.1:c.208C>T
ENST00000562120.1:n.21C>T
ENST00000566380.5:c.251C>T
ENST00000568513.5:c.173+86C>T
NM_002528.5:c.312C>T	NP_002519.1:p.Asn104=
XM_011522505.1:c.312C>T	XP_011520807.1:p.Asn104=
NM_001318193.1:c.312C>T	NP_001305122.1:p.Asn104=
NM_001318194.1:c.24+86C>T	NP_001305123.1:n.24+86C>T
NM_002528.6:c.312C>T	NP_002519.1:p.Asn104=
XM_017023253.1:c.312C>T	XP_016878742.1:p.Asn104=
NM_001318193.2:c.288C>T	NP_001305122.2:p.Asn96=
NM_002528.7:c.288C>T MANE Select	NP_002519.2:p.Asn96=
NM_001318194.2:c.24+86C>T	NP_001305123.1:n.24+86C>T