Canonical Allele Identifier: CA2783508334

Gene: DNAI1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517206G>C , CM000671.2:g.34517206G>C	GRCh38
NC_000009.11:g.34517204G>C , CM000671.1:g.34517204G>C	GRCh37
NC_000009.10:g.34507204G>C	NCBI36
NG_008127.1:g.63394G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1819-79G>C MANE Select	ENSP00000242317.4:n.1819-79G>C
ENST00000242317.8:c.1819-79G>C	ENSP00000242317.4:n.1819-79G>C
ENST00000442556.1:c.329+2467G>C
ENST00000470169.5:c.607-79G>C
ENST00000485580.1:n.395-79G>C
ENST00000614641.4:c.1831-79G>C	ENSP00000480538.1:n.1831-79G>C
NM_001281428.1:c.1831-79G>C	NP_001268357.1:n.1831-79G>C
NM_012144.3:c.1819-79G>C	NP_036276.1:n.1819-79G>C
XM_006716758.2:c.1288-79G>C	XP_006716821.1:n.1288-79G>C
XM_011517847.1:c.1842G>C	XP_011516149.1:p.Arg614Ser
XM_011517848.1:c.1573-79G>C	XP_011516150.1:n.1573-79G>C
XR_929233.1:n.1986G>C
XM_006716758.3:c.1288-79G>C	XP_006716821.1:n.1288-79G>C
XM_011517847.3:c.1842G>C	XP_011516149.1:p.Arg614Ser
XM_011517848.2:c.1573-79G>C	XP_011516150.1:n.1573-79G>C
XM_017014625.2:c.1561-79G>C	XP_016870114.1:n.1561-79G>C
XR_002956774.1:n.1922-79G>C
XR_929233.2:n.1933G>C
NM_012144.4:c.1819-79G>C MANE Select	NP_036276.1:n.1819-79G>C
NM_001281428.2:c.1831-79G>C	NP_001268357.1:n.1831-79G>C