Canonical Allele Identifier: CA1866632269
Gene: XPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675507G= , CM000671.2:g.97675507G= GRCh38
NC_000009.11:g.100437789G= , CM000671.1:g.100437789G= GRCh37
NC_000009.10:g.99477610G= NCBI36
NG_011642.1:g.26903C= , LRG_471:g.26903C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.754C= MANE Select ENSP00000364270.5:p.Leu252=
ENST00000375128.4:c.754C= ENSP00000364270.4:p.Leu252=
ENST00000462523.5:c.*190C= ENSP00000433006.1:n.*190C=
ENST00000485042.1:n.266C=
NM_000380.3:c.754C= , LRG_471t1:c.754C= NP_000371.1:p.Leu252=
NR_027302.1:n.1102C=
XM_006717278.1:c.754C= XP_006717341.1:p.Leu252=
XM_011518988.1:c.754C= XP_011517290.1:p.Leu252=
XR_929839.1:n.1285C=
NM_001354975.1:c.628C= NP_001341904.1:p.Leu210=
NR_149091.1:n.599C=
NR_149092.1:n.765C=
NR_149093.1:n.1291C=
NR_149094.1:n.1185C=
NM_000380.4:c.754C= MANE Select NP_000371.1:p.Leu252=
NM_001354975.2:c.628C= NP_001341904.1:p.Leu210=
NR_027302.2:n.1033C=
NR_149091.2:n.530C=
NR_149092.2:n.696C=
NR_149093.2:n.1222C=
NR_149094.2:n.1116C=