Canonical Allele Identifier: CA373263113

Gene: DNAI1

Linked Data

• MyVariant Identifiers: chr9:g.34514411G>C (hg19) ; chr9:g.34514413G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34514413G>C , CM000671.2:g.34514413G>C	GRCh38
NC_000009.11:g.34514411G>C , CM000671.1:g.34514411G>C	GRCh37
NC_000009.10:g.34504411G>C	NCBI36
NG_008127.1:g.60601G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1589G>C MANE Select	ENSP00000242317.4:p.Ser530Thr
ENST00000242317.8:c.1589G>C	ENSP00000242317.4:p.Ser530Thr
ENST00000442556.1:c.100G>C
ENST00000470169.5:c.507-227G>C
ENST00000485580.1:n.68G>C
ENST00000614641.4:c.1601G>C	ENSP00000480538.1:p.Ser534Thr
NM_001281428.1:c.1601G>C	NP_001268357.1:p.Ser534Thr
NM_012144.3:c.1589G>C	NP_036276.1:p.Ser530Thr
XM_006716758.2:c.1058G>C	XP_006716821.1:p.Ser353Thr
XM_011517846.1:c.1601G>C	XP_011516148.1:p.Ser534Thr
XM_011517847.1:c.1601G>C	XP_011516149.1:p.Ser534Thr
XM_011517848.1:c.1343G>C	XP_011516150.1:p.Ser448Thr
XM_011517849.1:c.1582-91G>C	XP_011516151.1:n.1582-91G>C
XR_929232.1:n.1836-91G>C
XR_929233.1:n.1836-91G>C
XR_929235.1:n.1578-91G>C
XM_006716758.3:c.1058G>C	XP_006716821.1:p.Ser353Thr
XM_011517846.2:c.1601G>C	XP_011516148.1:p.Ser534Thr
XM_011517847.3:c.1601G>C	XP_011516149.1:p.Ser534Thr
XM_011517848.2:c.1343G>C	XP_011516150.1:p.Ser448Thr
XM_011517849.2:c.1582-91G>C	XP_011516151.1:n.1582-91G>C
XM_017014625.2:c.1331G>C	XP_016870114.1:p.Ser444Thr
XR_002956774.1:n.1783-91G>C
XR_929232.2:n.1783-91G>C
XR_929233.2:n.1783-91G>C
NM_012144.4:c.1589G>C MANE Select	NP_036276.1:p.Ser530Thr
NM_001281428.2:c.1601G>C	NP_001268357.1:p.Ser534Thr