Canonical Allele Identifier: CA394298024

Gene: NTHL1

Linked Data

• ClinVar Variation Id: 1309727
• ClinVar RCV Id: RCV001756795
• dbSNP Id: rs2150947586
• MyVariant Identifiers: chr16:g.2096347G>A (hg19) ; chr16:g.2046346G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2046346G>A , CM000678.2:g.2046346G>A	GRCh38
NC_000016.9:g.2096347G>A , CM000678.1:g.2096347G>A	GRCh37
NC_000016.8:g.2036348G>A	NCBI36
NG_005895.1:g.2041G>A , LRG_487:g.2041G>A
NG_008412.1:g.6521C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651570.2:c.136C>T MANE Select	ENSP00000498421.1:p.Pro46Ser
ENST00000651583.1:c.91C>T	ENSP00000498821.1:p.Pro31Ser
ENST00000219066.5:c.160C>T	ENSP00000219066.1:p.Pro54Ser
ENST00000561841.1:c.56C>T
ENST00000566380.5:c.99C>T
ENST00000568513.5:c.107C>T
NM_002528.5:c.160C>T	NP_002519.1:p.Pro54Ser
XM_011522505.1:c.160C>T	XP_011520807.1:p.Pro54Ser
NM_001318193.1:c.160C>T	NP_001305122.1:p.Pro54Ser
NM_001318194.1:c.-43C>T	NP_001305123.1:n.-43C>T
NM_002528.6:c.160C>T	NP_002519.1:p.Pro54Ser
XM_017023253.1:c.160C>T	XP_016878742.1:p.Pro54Ser
NM_001318193.2:c.136C>T	NP_001305122.2:p.Pro46Ser
NM_002528.7:c.136C>T MANE Select	NP_002519.2:p.Pro46Ser
NM_001318194.2:c.-43C>T	NP_001305123.1:n.-43C>T