Canonical Allele Identifier: CA5034472

Gene: DNAI1

Linked Data

• dbSNP Id: rs751618128
• ExAC: 9:34514405 A / C
• gnomAD v2: 9-34514405-A-C
• MyVariant Identifiers: chr9:g.34514405A>C (hg19) ; chr9:g.34514407A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34514407A>C , CM000671.2:g.34514407A>C	GRCh38
NC_000009.11:g.34514405A>C , CM000671.1:g.34514405A>C	GRCh37
NC_000009.10:g.34504405A>C	NCBI36
NG_008127.1:g.60595A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1583A>C MANE Select	ENSP00000242317.4:p.Tyr528Ser
ENST00000242317.8:c.1583A>C	ENSP00000242317.4:p.Tyr528Ser
ENST00000442556.1:c.94A>C
ENST00000470169.5:c.507-233A>C
ENST00000485580.1:n.62A>C
ENST00000614641.4:c.1595A>C	ENSP00000480538.1:p.Tyr532Ser
NM_001281428.1:c.1595A>C	NP_001268357.1:p.Tyr532Ser
NM_012144.3:c.1583A>C	NP_036276.1:p.Tyr528Ser
XM_006716758.2:c.1052A>C	XP_006716821.1:p.Tyr351Ser
XM_011517846.1:c.1595A>C	XP_011516148.1:p.Tyr532Ser
XM_011517847.1:c.1595A>C	XP_011516149.1:p.Tyr532Ser
XM_011517848.1:c.1337A>C	XP_011516150.1:p.Tyr446Ser
XM_011517849.1:c.1582-97A>C	XP_011516151.1:n.1582-97A>C
XR_929232.1:n.1836-97A>C
XR_929233.1:n.1836-97A>C
XR_929235.1:n.1578-97A>C
XM_006716758.3:c.1052A>C	XP_006716821.1:p.Tyr351Ser
XM_011517846.2:c.1595A>C	XP_011516148.1:p.Tyr532Ser
XM_011517847.3:c.1595A>C	XP_011516149.1:p.Tyr532Ser
XM_011517848.2:c.1337A>C	XP_011516150.1:p.Tyr446Ser
XM_011517849.2:c.1582-97A>C	XP_011516151.1:n.1582-97A>C
XM_017014625.2:c.1325A>C	XP_016870114.1:p.Tyr442Ser
XR_002956774.1:n.1783-97A>C
XR_929232.2:n.1783-97A>C
XR_929233.2:n.1783-97A>C
NM_012144.4:c.1583A>C MANE Select	NP_036276.1:p.Tyr528Ser
NM_001281428.2:c.1595A>C	NP_001268357.1:p.Tyr532Ser