Canonical Allele Identifier: CA5034474

Gene: DNAI1

Linked Data

• dbSNP Id: rs781285289
• ExAC: 9:34514408 C / T
• gnomAD v2: 9-34514408-C-T
• gnomAD v3: 9-34514410-C-T
• gnomAD v4: 9-34514410-C-T
• MyVariant Identifiers: chr9:g.34514408C>T (hg19) ; chr9:g.34514410C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34514410C>T , CM000671.2:g.34514410C>T	GRCh38
NC_000009.11:g.34514408C>T , CM000671.1:g.34514408C>T	GRCh37
NC_000009.10:g.34504408C>T	NCBI36
NG_008127.1:g.60598C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1586C>T MANE Select	ENSP00000242317.4:p.Ser529Phe
ENST00000242317.8:c.1586C>T	ENSP00000242317.4:p.Ser529Phe
ENST00000442556.1:c.97C>T
ENST00000470169.5:c.507-230C>T
ENST00000485580.1:n.65C>T
ENST00000614641.4:c.1598C>T	ENSP00000480538.1:p.Ser533Phe
NM_001281428.1:c.1598C>T	NP_001268357.1:p.Ser533Phe
NM_012144.3:c.1586C>T	NP_036276.1:p.Ser529Phe
XM_006716758.2:c.1055C>T	XP_006716821.1:p.Ser352Phe
XM_011517846.1:c.1598C>T	XP_011516148.1:p.Ser533Phe
XM_011517847.1:c.1598C>T	XP_011516149.1:p.Ser533Phe
XM_011517848.1:c.1340C>T	XP_011516150.1:p.Ser447Phe
XM_011517849.1:c.1582-94C>T	XP_011516151.1:n.1582-94C>T
XR_929232.1:n.1836-94C>T
XR_929233.1:n.1836-94C>T
XR_929235.1:n.1578-94C>T
XM_006716758.3:c.1055C>T	XP_006716821.1:p.Ser352Phe
XM_011517846.2:c.1598C>T	XP_011516148.1:p.Ser533Phe
XM_011517847.3:c.1598C>T	XP_011516149.1:p.Ser533Phe
XM_011517848.2:c.1340C>T	XP_011516150.1:p.Ser447Phe
XM_011517849.2:c.1582-94C>T	XP_011516151.1:n.1582-94C>T
XM_017014625.2:c.1328C>T	XP_016870114.1:p.Ser443Phe
XR_002956774.1:n.1783-94C>T
XR_929232.2:n.1783-94C>T
XR_929233.2:n.1783-94C>T
NM_012144.4:c.1586C>T MANE Select	NP_036276.1:p.Ser529Phe
NM_001281428.2:c.1598C>T	NP_001268357.1:p.Ser533Phe