Canonical Allele Identifier: CA373257486

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 525437
• ClinVar RCV Id: RCV000629494
• dbSNP Id: rs1256336794
• gnomAD v2: 9-34506825-T-C
• gnomAD v3: 9-34506827-T-C
• gnomAD v4: 9-34506827-T-C
• MyVariant Identifiers: chr9:g.34506825T>C (hg19) ; chr9:g.34506827T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34506827T>C , CM000671.2:g.34506827T>C	GRCh38
NC_000009.11:g.34506825T>C , CM000671.1:g.34506825T>C	GRCh37
NC_000009.10:g.34496825T>C	NCBI36
NG_008127.1:g.53015T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1264T>C MANE Select	ENSP00000242317.4:p.Phe422Leu
ENST00000242317.8:c.1264T>C	ENSP00000242317.4:p.Phe422Leu
ENST00000470169.5:c.201T>C
ENST00000614641.4:c.1276T>C	ENSP00000480538.1:p.Phe426Leu
NM_001281428.1:c.1276T>C	NP_001268357.1:p.Phe426Leu
NM_012144.3:c.1264T>C	NP_036276.1:p.Phe422Leu
XM_006716758.2:c.733T>C	XP_006716821.1:p.Phe245Leu
XM_011517846.1:c.1276T>C	XP_011516148.1:p.Phe426Leu
XM_011517847.1:c.1276T>C	XP_011516149.1:p.Phe426Leu
XM_011517848.1:c.1276T>C	XP_011516150.1:p.Phe426Leu
XM_011517849.1:c.1276T>C	XP_011516151.1:p.Phe426Leu
XM_011517850.1:c.1276T>C	XP_011516152.1:p.Phe426Leu
XR_929232.1:n.1530T>C
XR_929233.1:n.1530T>C
XR_929235.1:n.1530T>C
XM_006716758.3:c.733T>C	XP_006716821.1:p.Phe245Leu
XM_011517846.2:c.1276T>C	XP_011516148.1:p.Phe426Leu
XM_011517847.3:c.1276T>C	XP_011516149.1:p.Phe426Leu
XM_011517848.2:c.1276T>C	XP_011516150.1:p.Phe426Leu
XM_011517849.2:c.1276T>C	XP_011516151.1:p.Phe426Leu
XM_011517850.3:c.1276T>C	XP_011516152.1:p.Phe426Leu
XM_017014625.2:c.1264T>C	XP_016870114.1:p.Phe422Leu
XR_002956774.1:n.1477T>C
XR_929232.2:n.1477T>C
XR_929233.2:n.1477T>C
NM_012144.4:c.1264T>C MANE Select	NP_036276.1:p.Phe422Leu
NM_001281428.2:c.1276T>C	NP_001268357.1:p.Phe426Leu