Canonical Allele Identifier: CA10396272

Gene: UBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47214875C>T , CM000685.2:g.47214875C>T	GRCh38
NC_000023.10:g.47074274C>T , CM000685.1:g.47074274C>T	GRCh37
NC_000023.9:g.46959218C>T	NCBI36
NG_009161.1:g.29076C>T
NG_012517.1:g.1747C>T
NG_012517.2:g.1747C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335972.11:c.3123C>T MANE Select	ENSP00000338413.6:p.Asn1041=
ENST00000335972.10:c.3123C>T	ENSP00000338413.6:p.Asn1041=
ENST00000377269.3:c.1467C>T	ENSP00000366481.3:p.Asn489=
ENST00000377351.8:c.3123C>T	ENSP00000366568.4:p.Asn1041=
NM_003334.3:c.3123C>T	NP_003325.2:p.Asn1041=
NM_153280.2:c.3123C>T	NP_695012.1:p.Asn1041=
XM_005272649.1:c.3141C>T	XP_005272706.1:p.Asn1047=
XM_005272650.1:c.3123C>T	XP_005272707.1:p.Asn1041=
XM_011543953.1:c.3207C>T	XP_011542255.1:p.Asn1069=
XM_011543954.1:c.3165C>T	XP_011542256.1:p.Asn1055=
XM_011543955.1:c.3141C>T	XP_011542257.1:p.Asn1047=
XM_011543956.1:c.3123C>T	XP_011542258.1:p.Asn1041=
XR_949047.1:n.215+2131G>A
XM_011543954.2:c.3165C>T	XP_011542256.1:p.Asn1055=
XM_017029777.1:c.3276C>T	XP_016885266.1:p.Asn1092=
XM_017029778.2:c.3207C>T	XP_016885267.1:p.Asn1069=
XM_017029779.2:c.3141C>T	XP_016885268.1:p.Asn1047=
XM_017029780.1:c.3123C>T	XP_016885269.1:p.Asn1041=
XM_017029781.1:c.3123C>T	XP_016885270.1:p.Asn1041=
XR_949047.3:n.283+2131G>A
NM_003334.4:c.3123C>T MANE Select	NP_003325.2:p.Asn1041=
NM_153280.3:c.3123C>T	NP_695012.1:p.Asn1041=