Canonical Allele Identifier: CA373266513

Gene: DNAI1

Linked Data

• gnomAD v4: 9-34517327-T-C
• MyVariant Identifiers: chr9:g.34517325T>C (hg19) ; chr9:g.34517327T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517327T>C , CM000671.2:g.34517327T>C	GRCh38
NC_000009.11:g.34517325T>C , CM000671.1:g.34517325T>C	GRCh37
NC_000009.10:g.34507325T>C	NCBI36
NG_008127.1:g.63515T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1861T>C MANE Select	ENSP00000242317.4:p.Cys621Arg
ENST00000242317.8:c.1861T>C	ENSP00000242317.4:p.Cys621Arg
ENST00000442556.1:c.329+2588T>C
ENST00000470169.5:c.649T>C
ENST00000485580.1:n.437T>C
ENST00000614641.4:c.1873T>C	ENSP00000480538.1:p.Cys625Arg
NM_001281428.1:c.1873T>C	NP_001268357.1:p.Cys625Arg
NM_012144.3:c.1861T>C	NP_036276.1:p.Cys621Arg
XM_006716758.2:c.1330T>C	XP_006716821.1:p.Cys444Arg
XM_011517848.1:c.1615T>C	XP_011516150.1:p.Cys539Arg
XM_006716758.3:c.1330T>C	XP_006716821.1:p.Cys444Arg
XM_011517848.2:c.1615T>C	XP_011516150.1:p.Cys539Arg
XM_017014625.2:c.1603T>C	XP_016870114.1:p.Cys535Arg
XR_002956774.1:n.1964T>C
NM_012144.4:c.1861T>C MANE Select	NP_036276.1:p.Cys621Arg
NM_001281428.2:c.1873T>C	NP_001268357.1:p.Cys625Arg