Canonical Allele Identifier: CA373263363

Gene: DNAI1

Linked Data

• gnomAD v4: 9-34514449-C-T
• MyVariant Identifiers: chr9:g.34514447C>T (hg19) ; chr9:g.34514449C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34514449C>T , CM000671.2:g.34514449C>T	GRCh38
NC_000009.11:g.34514447C>T , CM000671.1:g.34514447C>T	GRCh37
NC_000009.10:g.34504447C>T	NCBI36
NG_008127.1:g.60637C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1625C>T MANE Select	ENSP00000242317.4:p.Ser542Leu
ENST00000242317.8:c.1625C>T	ENSP00000242317.4:p.Ser542Leu
ENST00000442556.1:c.136C>T
ENST00000470169.5:c.507-191C>T
ENST00000485580.1:n.104C>T
ENST00000614641.4:c.1637C>T	ENSP00000480538.1:p.Ser546Leu
NM_001281428.1:c.1637C>T	NP_001268357.1:p.Ser546Leu
NM_012144.3:c.1625C>T	NP_036276.1:p.Ser542Leu
XM_006716758.2:c.1094C>T	XP_006716821.1:p.Ser365Leu
XM_011517846.1:c.1637C>T	XP_011516148.1:p.Ser546Leu
XM_011517847.1:c.1637C>T	XP_011516149.1:p.Ser546Leu
XM_011517848.1:c.1379C>T	XP_011516150.1:p.Ser460Leu
XM_011517849.1:c.1582-55C>T	XP_011516151.1:n.1582-55C>T
XR_929232.1:n.1836-55C>T
XR_929233.1:n.1836-55C>T
XR_929235.1:n.1578-55C>T
XM_006716758.3:c.1094C>T	XP_006716821.1:p.Ser365Leu
XM_011517846.2:c.1637C>T	XP_011516148.1:p.Ser546Leu
XM_011517847.3:c.1637C>T	XP_011516149.1:p.Ser546Leu
XM_011517848.2:c.1379C>T	XP_011516150.1:p.Ser460Leu
XM_011517849.2:c.1582-55C>T	XP_011516151.1:n.1582-55C>T
XM_017014625.2:c.1367C>T	XP_016870114.1:p.Ser456Leu
XR_002956774.1:n.1783-55C>T
XR_929232.2:n.1783-55C>T
XR_929233.2:n.1783-55C>T
NM_012144.4:c.1625C>T MANE Select	NP_036276.1:p.Ser542Leu
NM_001281428.2:c.1637C>T	NP_001268357.1:p.Ser546Leu