Canonical Allele Identifier: CA10396240

Gene: UBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47214523C>T , CM000685.2:g.47214523C>T	GRCh38
NC_000023.10:g.47073922C>T , CM000685.1:g.47073922C>T	GRCh37
NC_000023.9:g.46958866C>T	NCBI36
NG_009161.1:g.28724C>T
NG_012517.1:g.1395C>T
NG_012517.2:g.1395C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003334.4:c.2941-14C>T MANE Select	NP_003325.2:n.2941-14C>T
ENST00000335972.11:c.2941-14C>T MANE Select	ENSP00000338413.6:n.2941-14C>T
NM_003334.3:c.2941-14C>T	NP_003325.2:n.2941-14C>T
NM_153280.2:c.2941-14C>T	NP_695012.1:n.2941-14C>T
NM_153280.3:c.2941-14C>T	NP_695012.1:n.2941-14C>T
ENST00000335972.10:c.2941-14C>T	ENSP00000338413.6:n.2941-14C>T
ENST00000377269.3:c.1285-14C>T	ENSP00000366481.3:n.1285-14C>T
ENST00000377351.8:c.2941-14C>T	ENSP00000366568.4:n.2941-14C>T
XM_005272649.1:c.2959-14C>T	XP_005272706.1:n.2959-14C>T
XM_005272650.1:c.2941-14C>T	XP_005272707.1:n.2941-14C>T
XM_011543953.1:c.3025-14C>T	XP_011542255.1:n.3025-14C>T
XM_011543954.1:c.2983-14C>T	XP_011542256.1:n.2983-14C>T
XM_011543954.2:c.2983-14C>T	XP_011542256.1:n.2983-14C>T
XM_011543955.1:c.2959-14C>T	XP_011542257.1:n.2959-14C>T
XM_011543956.1:c.2941-14C>T	XP_011542258.1:n.2941-14C>T
XM_017029777.1:c.3094-14C>T	XP_016885266.1:n.3094-14C>T
XM_017029778.2:c.3025-14C>T	XP_016885267.1:n.3025-14C>T
XM_017029779.2:c.2959-14C>T	XP_016885268.1:n.2959-14C>T
XM_017029780.1:c.2941-14C>T	XP_016885269.1:n.2941-14C>T
XM_017029781.1:c.2941-14C>T	XP_016885270.1:n.2941-14C>T
XR_949047.1:n.215+2483G>A
XR_949047.3:n.283+2483G>A