Canonical Allele Identifier: CA5034499

Gene: DNAI1

Linked Data

• ClinVar Variation Id: 288744
• ClinVar RCV Id: RCV000379019 ; RCV000539548
• dbSNP Id: rs772686744
• ExAC: 9:34514525 G / C
• gnomAD v2: 9-34514525-G-C
• gnomAD v3: 9-34514527-G-C
• gnomAD v4: 9-34514527-G-C
• MyVariant Identifiers: chr9:g.34514525G>C (hg19) ; chr9:g.34514527G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34514527G>C , CM000671.2:g.34514527G>C	GRCh38
NC_000009.11:g.34514525G>C , CM000671.1:g.34514525G>C	GRCh37
NC_000009.10:g.34504525G>C	NCBI36
NG_008127.1:g.60715G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1703G>C MANE Select	ENSP00000242317.4:p.Trp568Ser
ENST00000242317.8:c.1703G>C	ENSP00000242317.4:p.Trp568Ser
ENST00000442556.1:c.214G>C
ENST00000470169.5:c.507-113G>C
ENST00000485580.1:n.182G>C
ENST00000614641.4:c.1715G>C	ENSP00000480538.1:p.Trp572Ser
NM_001281428.1:c.1715G>C	NP_001268357.1:p.Trp572Ser
NM_012144.3:c.1703G>C	NP_036276.1:p.Trp568Ser
XM_006716758.2:c.1172G>C	XP_006716821.1:p.Trp391Ser
XM_011517846.1:c.1715G>C	XP_011516148.1:p.Trp572Ser
XM_011517847.1:c.1715G>C	XP_011516149.1:p.Trp572Ser
XM_011517848.1:c.1457G>C	XP_011516150.1:p.Trp486Ser
XM_011517849.1:c.1605G>C	XP_011516151.1:p.Leu535=
XR_929232.1:n.1859G>C
XR_929233.1:n.1859G>C
XR_929235.1:n.1601G>C
XM_006716758.3:c.1172G>C	XP_006716821.1:p.Trp391Ser
XM_011517846.2:c.1715G>C	XP_011516148.1:p.Trp572Ser
XM_011517847.3:c.1715G>C	XP_011516149.1:p.Trp572Ser
XM_011517848.2:c.1457G>C	XP_011516150.1:p.Trp486Ser
XM_011517849.2:c.1605G>C	XP_011516151.1:p.Leu535=
XM_017014625.2:c.1445G>C	XP_016870114.1:p.Trp482Ser
XR_002956774.1:n.1806G>C
XR_929232.2:n.1806G>C
XR_929233.2:n.1806G>C
NM_012144.4:c.1703G>C MANE Select	NP_036276.1:p.Trp568Ser
NM_001281428.2:c.1715G>C	NP_001268357.1:p.Trp572Ser