Canonical Allele Identifier: CA2693563220

Gene: UBA1

Linked Data

• gnomAD v4: X-47193863-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47193863C>T , CM000685.2:g.47193863C>T	GRCh38
NC_000023.10:g.47053262C>T , CM000685.1:g.47053262C>T	GRCh37
NC_000023.9:g.46938206C>T	NCBI36
NG_009161.1:g.8064C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335972.11:c.-162C>T MANE Select	ENSP00000338413.6:n.-162C>T
ENST00000335972.10:c.-162C>T	ENSP00000338413.6:n.-162C>T
ENST00000377351.8:c.-1+2913C>T	ENSP00000366568.4:n.-1+2913C>T
ENST00000412206.5:c.-1+2129C>T	ENSP00000415033.1:n.-1+2129C>T
ENST00000427561.5:c.-6+2296C>T	ENSP00000397816.1:n.-6+2296C>T
ENST00000442035.5:c.-167C>T	ENSP00000389583.1:n.-167C>T
ENST00000457753.5:c.-198C>T	ENSP00000404796.1:n.-198C>T
NM_003334.3:c.-162C>T	NP_003325.2:n.-162C>T
NM_153280.2:c.-1+2913C>T	NP_695012.1:n.-1+2913C>T
XM_005272649.1:c.-222C>T	XP_005272706.1:n.-222C>T
XM_005272650.1:c.-276C>T	XP_005272707.1:n.-276C>T
XM_011543953.1:c.-239C>T	XP_011542255.1:n.-239C>T
XM_011543954.1:c.-167C>T	XP_011542256.1:n.-167C>T
XM_011543955.1:c.-219C>T	XP_011542257.1:n.-219C>T
XM_011543954.2:c.-167C>T	XP_011542256.1:n.-167C>T
NM_003334.4:c.-162C>T MANE Select	NP_003325.2:n.-162C>T
NM_153280.3:c.-1+2913C>T	NP_695012.1:n.-1+2913C>T