Canonical Allele Identifier: CA373266570

Gene: DNAI1

Linked Data

• MyVariant Identifiers: chr9:g.34517337G>T (hg19) ; chr9:g.34517339G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517339G>T , CM000671.2:g.34517339G>T	GRCh38
NC_000009.11:g.34517337G>T , CM000671.1:g.34517337G>T	GRCh37
NC_000009.10:g.34507337G>T	NCBI36
NG_008127.1:g.63527G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1873G>T MANE Select	ENSP00000242317.4:p.Val625Leu
ENST00000242317.8:c.1873G>T	ENSP00000242317.4:p.Val625Leu
ENST00000442556.1:c.329+2600G>T
ENST00000470169.5:c.661G>T
ENST00000485580.1:n.449G>T
ENST00000614641.4:c.1885G>T	ENSP00000480538.1:p.Val629Leu
NM_001281428.1:c.1885G>T	NP_001268357.1:p.Val629Leu
NM_012144.3:c.1873G>T	NP_036276.1:p.Val625Leu
XM_006716758.2:c.1342G>T	XP_006716821.1:p.Val448Leu
XM_011517848.1:c.1627G>T	XP_011516150.1:p.Val543Leu
XM_006716758.3:c.1342G>T	XP_006716821.1:p.Val448Leu
XM_011517848.2:c.1627G>T	XP_011516150.1:p.Val543Leu
XM_017014625.2:c.1615G>T	XP_016870114.1:p.Val539Leu
XR_002956774.1:n.1976G>T
NM_012144.4:c.1873G>T MANE Select	NP_036276.1:p.Val625Leu
NM_001281428.2:c.1885G>T	NP_001268357.1:p.Val629Leu