Canonical Allele Identifier: CA334979105
Gene: UBE2A HGNC NCBI

Linked Data

dbSNP Id: rs7879933
gnomAD v2: X-118716987-C-A
gnomAD v3: X-119583024-C-A
gnomAD v4: X-119583024-C-A
MyVariant Identifiers: chrX:g.118716987C>A (hg19) chrX:g.119583024C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.119583024C>A , CM000685.2:g.119583024C>A GRCh38
NC_000023.10:g.118716987C>A , CM000685.1:g.118716987C>A GRCh37
NC_000023.9:g.118601015C>A NCBI36
NG_009267.1:g.13489C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000696533.1:c.547-103C>A ENSP00000512694.1:n.547-103C>A
ENST00000696534.1:c.331-103C>A ENSP00000512695.1:n.331-103C>A
ENST00000696539.1:c.547-103C>A ENSP00000512700.1:n.547-103C>A
ENST00000371558.7:c.331-103C>A MANE Select ENSP00000360613.2:n.331-103C>A
ENST00000346330.6:c.322-103C>A ENSP00000335027.4:n.322-103C>A
ENST00000371558.6:c.331-103C>A ENSP00000360613.2:n.331-103C>A
ENST00000371569.6:n.1352-103C>A
ENST00000625938.2:c.241-103C>A ENSP00000486599.1:n.241-103C>A
ENST00000628549.1:c.232-103C>A ENSP00000487203.1:n.232-103C>A
ENST00000628734.1:n.310-103C>A
ENST00000630695.2:c.106-103C>A ENSP00000486550.1:n.106-103C>A
ENST00000631185.2:c.330+348C>A ENSP00000486153.1:n.330+348C>A
NM_001282161.1:c.232-103C>A NP_001269090.1:n.232-103C>A
NM_003336.3:c.331-103C>A NP_003327.2:n.331-103C>A
NM_181762.2:c.241-103C>A NP_861427.1:n.241-103C>A
NM_003336.4:c.331-103C>A MANE Select NP_003327.2:n.331-103C>A
NM_001282161.2:c.232-103C>A NP_001269090.1:n.232-103C>A
NM_181762.3:c.241-103C>A NP_861427.1:n.241-103C>A
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