Canonical Allele Identifier: CA2693563216

Gene: UBA1

Linked Data

• gnomAD v4: X-47193860-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47193860T>G , CM000685.2:g.47193860T>G	GRCh38
NC_000023.10:g.47053259T>G , CM000685.1:g.47053259T>G	GRCh37
NC_000023.9:g.46938203T>G	NCBI36
NG_009161.1:g.8061T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335972.11:c.-165T>G MANE Select	ENSP00000338413.6:n.-165T>G
ENST00000335972.10:c.-165T>G	ENSP00000338413.6:n.-165T>G
ENST00000377351.8:c.-1+2910T>G	ENSP00000366568.4:n.-1+2910T>G
ENST00000412206.5:c.-1+2126T>G	ENSP00000415033.1:n.-1+2126T>G
ENST00000427561.5:c.-6+2293T>G	ENSP00000397816.1:n.-6+2293T>G
ENST00000442035.5:c.-170T>G	ENSP00000389583.1:n.-170T>G
ENST00000457753.5:c.-201T>G	ENSP00000404796.1:n.-201T>G
NM_003334.3:c.-165T>G	NP_003325.2:n.-165T>G
NM_153280.2:c.-1+2910T>G	NP_695012.1:n.-1+2910T>G
XM_005272649.1:c.-225T>G	XP_005272706.1:n.-225T>G
XM_005272650.1:c.-279T>G	XP_005272707.1:n.-279T>G
XM_011543953.1:c.-242T>G	XP_011542255.1:n.-242T>G
XM_011543954.1:c.-170T>G	XP_011542256.1:n.-170T>G
XM_011543955.1:c.-222T>G	XP_011542257.1:n.-222T>G
XM_011543954.2:c.-170T>G	XP_011542256.1:n.-170T>G
NM_003334.4:c.-165T>G MANE Select	NP_003325.2:n.-165T>G
NM_153280.3:c.-1+2910T>G	NP_695012.1:n.-1+2910T>G