Canonical Allele Identifier: CA352146

Gene: DAZAP1

Linked Data

• ClinVar Variation Id: 222962
• ClinVar RCV Id: RCV000208559
• dbSNP Id: rs869025246
• MyVariant Identifiers: chr19:g.1434900T>C (hg19) ; chr19:g.1434901T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1434901T>C , CM000681.2:g.1434901T>C	GRCh38
NC_000019.9:g.1434900T>C , CM000681.1:g.1434900T>C	GRCh37
NC_000019.8:g.1385900T>C	NCBI36
NG_017014.1:g.1538T>C
NG_029884.1:g.32317T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233078.9:c.1213T>C MANE Select	ENSP00000233078.4:p.Tyr405His
ENST00000233078.8:c.1213T>C	ENSP00000233078.3:p.Tyr405His
ENST00000336761.10:c.*165T>C	ENSP00000337132.5:n.*165T>C
ENST00000585485.2:n.3160T>C
ENST00000587079.5:c.1210T>C	ENSP00000465433.2:p.Tyr404His
ENST00000589484.5:n.2628T>C
ENST00000589874.2:n.2859T>C
ENST00000592522.5:c.1210T>C	ENSP00000467680.2:p.Tyr404His
NM_018959.3:c.1213T>C	NP_061832.2:p.Tyr405His
NM_170711.2:c.*165T>C	NP_733829.1:n.*165T>C
XM_005259531.2:c.1210T>C	XP_005259588.1:p.Tyr404His
XM_005259534.2:c.694T>C	XP_005259591.1:p.Tyr232His
XM_005259535.2:c.694T>C	XP_005259592.1:p.Tyr232His
XM_005259536.2:c.691T>C	XP_005259593.1:p.Tyr231His
XM_011527904.1:c.1642T>C	XP_011526206.1:p.Tyr548His
XM_011527905.1:c.1639T>C	XP_011526207.1:p.Tyr547His
XM_011527906.1:c.1639T>C	XP_011526208.1:p.Tyr547His
XM_011527907.1:c.1636T>C	XP_011526209.1:p.Tyr546His
XM_011527908.1:c.*165T>C	XP_011526210.1:n.*165T>C
XM_011527910.1:c.1090T>C	XP_011526212.1:p.Tyr364His
NM_001352033.1:c.1210T>C	NP_001338962.1:p.Tyr404His
NM_001352034.1:c.1210T>C	NP_001338963.1:p.Tyr404His
NM_001352035.1:c.694T>C	NP_001338964.1:p.Tyr232His
XM_005259535.3:c.694T>C	XP_005259592.1:p.Tyr232His
XM_005259536.4:c.691T>C	XP_005259593.1:p.Tyr231His
XM_011527904.2:c.1642T>C	XP_011526206.1:p.Tyr548His
XM_011527905.2:c.1639T>C	XP_011526207.1:p.Tyr547His
XM_011527906.2:c.1639T>C	XP_011526208.1:p.Tyr547His
XM_011527907.2:c.1636T>C	XP_011526209.1:p.Tyr546His
XM_011527908.2:c.*165T>C	XP_011526210.1:n.*165T>C
XM_011527910.2:c.1090T>C	XP_011526212.1:p.Tyr364His
NM_001352033.2:c.1210T>C	NP_001338962.1:p.Tyr404His
NM_001352034.2:c.1210T>C	NP_001338963.1:p.Tyr404His
NM_001352035.2:c.694T>C	NP_001338964.1:p.Tyr232His
NM_018959.4:c.1213T>C MANE Select	NP_061832.2:p.Tyr405His
NM_170711.3:c.*165T>C	NP_733829.1:n.*165T>C