Canonical Allele Identifier: CA2693563180

Gene: UBA1

Linked Data

• gnomAD v4: X-47193780-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47193780T>G , CM000685.2:g.47193780T>G	GRCh38
NC_000023.10:g.47053179T>G , CM000685.1:g.47053179T>G	GRCh37
NC_000023.9:g.46938123T>G	NCBI36
NG_009161.1:g.7981T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377351.8:c.-1+2830T>G	ENSP00000366568.4:n.-1+2830T>G
ENST00000412206.5:c.-1+2046T>G	ENSP00000415033.1:n.-1+2046T>G
ENST00000427561.5:c.-6+2213T>G	ENSP00000397816.1:n.-6+2213T>G
NM_153280.2:c.-1+2830T>G	NP_695012.1:n.-1+2830T>G
XM_005272649.1:c.-305T>G	XP_005272706.1:n.-305T>G
XM_005272650.1:c.-359T>G	XP_005272707.1:n.-359T>G
XM_011543953.1:c.-322T>G	XP_011542255.1:n.-322T>G
XM_011543954.1:c.-250T>G	XP_011542256.1:n.-250T>G
XM_011543955.1:c.-302T>G	XP_011542257.1:n.-302T>G
NM_153280.3:c.-1+2830T>G	NP_695012.1:n.-1+2830T>G