Canonical Allele Identifier: CA412792499

Gene: UBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47201294T>G , CM000685.2:g.47201294T>G	GRCh38
NC_000023.10:g.47060693T>G , CM000685.1:g.47060693T>G	GRCh37
NC_000023.9:g.46945637T>G	NCBI36
NG_009161.1:g.15495T>G
NG_021353.1:g.1447T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003334.4:c.606T>G MANE Select	NP_003325.2:p.Phe202Leu
ENST00000335972.11:c.606T>G MANE Select	ENSP00000338413.6:p.Phe202Leu
NM_003334.3:c.606T>G	NP_003325.2:p.Phe202Leu
NM_153280.2:c.606T>G	NP_695012.1:p.Phe202Leu
NM_153280.3:c.606T>G	NP_695012.1:p.Phe202Leu
ENST00000335972.10:c.606T>G	ENSP00000338413.6:p.Phe202Leu
ENST00000377351.8:c.606T>G	ENSP00000366568.4:p.Phe202Leu
ENST00000412206.5:c.606T>G	ENSP00000415033.1:p.Phe202Leu
ENST00000442035.5:c.648T>G	ENSP00000389583.1:p.Phe216Leu
XM_005272649.1:c.624T>G	XP_005272706.1:p.Phe208Leu
XM_005272650.1:c.606T>G	XP_005272707.1:p.Phe202Leu
XM_011543953.1:c.690T>G	XP_011542255.1:p.Phe230Leu
XM_011543954.1:c.648T>G	XP_011542256.1:p.Phe216Leu
XM_011543954.2:c.648T>G	XP_011542256.1:p.Phe216Leu
XM_011543955.1:c.624T>G	XP_011542257.1:p.Phe208Leu
XM_011543956.1:c.606T>G	XP_011542258.1:p.Phe202Leu
XM_017029777.1:c.759T>G	XP_016885266.1:p.Phe253Leu
XM_017029778.2:c.690T>G	XP_016885267.1:p.Phe230Leu
XM_017029779.2:c.624T>G	XP_016885268.1:p.Phe208Leu
XM_017029780.1:c.606T>G	XP_016885269.1:p.Phe202Leu
XM_017029781.1:c.606T>G	XP_016885270.1:p.Phe202Leu