Canonical Allele Identifier: CA2820761161

Gene: UBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47193857A>T , CM000685.2:g.47193857A>T	GRCh38
NC_000023.10:g.47053256A>T , CM000685.1:g.47053256A>T	GRCh37
NC_000023.9:g.46938200A>T	NCBI36
NG_009161.1:g.8058A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335972.11:c.-168A>T MANE Select	ENSP00000338413.6:n.-168A>T
ENST00000335972.10:c.-168A>T	ENSP00000338413.6:n.-168A>T
ENST00000377351.8:c.-1+2907A>T	ENSP00000366568.4:n.-1+2907A>T
ENST00000412206.5:c.-1+2123A>T	ENSP00000415033.1:n.-1+2123A>T
ENST00000427561.5:c.-6+2290A>T	ENSP00000397816.1:n.-6+2290A>T
ENST00000442035.5:c.-173A>T	ENSP00000389583.1:n.-173A>T
ENST00000457753.5:c.-204A>T	ENSP00000404796.1:n.-204A>T
NM_003334.3:c.-168A>T	NP_003325.2:n.-168A>T
NM_153280.2:c.-1+2907A>T	NP_695012.1:n.-1+2907A>T
XM_005272649.1:c.-228A>T	XP_005272706.1:n.-228A>T
XM_005272650.1:c.-282A>T	XP_005272707.1:n.-282A>T
XM_011543953.1:c.-245A>T	XP_011542255.1:n.-245A>T
XM_011543954.1:c.-173A>T	XP_011542256.1:n.-173A>T
XM_011543955.1:c.-225A>T	XP_011542257.1:n.-225A>T
XM_011543954.2:c.-173A>T	XP_011542256.1:n.-173A>T
NM_003334.4:c.-168A>T MANE Select	NP_003325.2:n.-168A>T
NM_153280.3:c.-1+2907A>T	NP_695012.1:n.-1+2907A>T