Canonical Allele Identifier: CA373261565

Gene: DNAI1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34513112G>C , CM000671.2:g.34513112G>C	GRCh38
NC_000009.11:g.34513110G>C , CM000671.1:g.34513110G>C	GRCh37
NC_000009.10:g.34503110G>C	NCBI36
NG_008127.1:g.59300G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1490G>C MANE Select	ENSP00000242317.4:p.Gly497Ala
ENST00000242317.8:c.1490G>C	ENSP00000242317.4:p.Gly497Ala
ENST00000442556.1:c.1G>C
ENST00000470169.5:c.427G>C
ENST00000614641.4:c.1502G>C	ENSP00000480538.1:p.Gly501Ala
NM_001281428.1:c.1502G>C	NP_001268357.1:p.Gly501Ala
NM_012144.3:c.1490G>C	NP_036276.1:p.Gly497Ala
XM_006716758.2:c.959G>C	XP_006716821.1:p.Gly320Ala
XM_011517846.1:c.1502G>C	XP_011516148.1:p.Gly501Ala
XM_011517847.1:c.1502G>C	XP_011516149.1:p.Gly501Ala
XM_011517848.1:c.1324-1282G>C	XP_011516150.1:n.1324-1282G>C
XM_011517849.1:c.1502G>C	XP_011516151.1:p.Gly501Ala
XR_929232.1:n.1756G>C
XR_929233.1:n.1756G>C
XR_929235.1:n.1578-1392G>C
XM_006716758.3:c.959G>C	XP_006716821.1:p.Gly320Ala
XM_011517846.2:c.1502G>C	XP_011516148.1:p.Gly501Ala
XM_011517847.3:c.1502G>C	XP_011516149.1:p.Gly501Ala
XM_011517848.2:c.1324-1282G>C	XP_011516150.1:n.1324-1282G>C
XM_011517849.2:c.1502G>C	XP_011516151.1:p.Gly501Ala
XM_017014625.2:c.1312-1282G>C	XP_016870114.1:n.1312-1282G>C
XR_002956774.1:n.1703G>C
XR_929232.2:n.1703G>C
XR_929233.2:n.1703G>C
NM_012144.4:c.1490G>C MANE Select	NP_036276.1:p.Gly497Ala
NM_001281428.2:c.1502G>C	NP_001268357.1:p.Gly501Ala