Canonical Allele Identifier: CA373263483

Gene: DNAI1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34514468G>C , CM000671.2:g.34514468G>C	GRCh38
NC_000009.11:g.34514466G>C , CM000671.1:g.34514466G>C	GRCh37
NC_000009.10:g.34504466G>C	NCBI36
NG_008127.1:g.60656G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_012144.4:c.1644G>C MANE Select	NP_036276.1:p.Trp548Cys
ENST00000242317.9:c.1644G>C MANE Select	ENSP00000242317.4:p.Trp548Cys
NM_001281428.1:c.1656G>C	NP_001268357.1:p.Trp552Cys
NM_001281428.2:c.1656G>C	NP_001268357.1:p.Trp552Cys
NM_012144.3:c.1644G>C	NP_036276.1:p.Trp548Cys
ENST00000242317.8:c.1644G>C	ENSP00000242317.4:p.Trp548Cys
ENST00000442556.1:c.155G>C
ENST00000470169.5:c.507-172G>C
ENST00000485580.1:n.123G>C
ENST00000614641.4:c.1656G>C	ENSP00000480538.1:p.Trp552Cys
XM_006716758.2:c.1113G>C	XP_006716821.1:p.Trp371Cys
XM_006716758.3:c.1113G>C	XP_006716821.1:p.Trp371Cys
XM_011517846.1:c.1656G>C	XP_011516148.1:p.Trp552Cys
XM_011517846.2:c.1656G>C	XP_011516148.1:p.Trp552Cys
XM_011517847.1:c.1656G>C	XP_011516149.1:p.Trp552Cys
XM_011517847.3:c.1656G>C	XP_011516149.1:p.Trp552Cys
XM_011517848.1:c.1398G>C	XP_011516150.1:p.Trp466Cys
XM_011517848.2:c.1398G>C	XP_011516150.1:p.Trp466Cys
XM_011517849.1:c.1582-36G>C	XP_011516151.1:n.1582-36G>C
XM_011517849.2:c.1582-36G>C	XP_011516151.1:n.1582-36G>C
XM_017014625.2:c.1386G>C	XP_016870114.1:p.Trp462Cys
XR_002956774.1:n.1783-36G>C
XR_929232.1:n.1836-36G>C
XR_929232.2:n.1783-36G>C
XR_929233.1:n.1836-36G>C
XR_929233.2:n.1783-36G>C
XR_929235.1:n.1578-36G>C