Canonical Allele Identifier: CA466174794

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437751A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675469A>G , CM000671.2:g.97675469A>G	GRCh38
NC_000009.11:g.100437751A>G , CM000671.1:g.100437751A>G	GRCh37
NC_000009.10:g.99477572A>G	NCBI36
NG_011642.1:g.26941T>C , LRG_471:g.26941T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.792T>C MANE Select	ENSP00000364270.5:p.Cys264=
ENST00000375128.4:c.792T>C	ENSP00000364270.4:p.Cys264=
ENST00000462523.5:c.*228T>C	ENSP00000433006.1:n.*228T>C
ENST00000485042.1:n.304T>C
NM_000380.3:c.792T>C , LRG_471t1:c.792T>C	NP_000371.1:p.Cys264=
NR_027302.1:n.1140T>C
XM_006717278.1:c.772+20T>C	XP_006717341.1:n.772+20T>C
XM_011518988.1:c.772+20T>C	XP_011517290.1:n.772+20T>C
NM_001354975.1:c.666T>C	NP_001341904.1:p.Cys222=
NR_149091.1:n.637T>C
NR_149092.1:n.803T>C
NR_149093.1:n.1329T>C
NR_149094.1:n.1223T>C
NM_000380.4:c.792T>C MANE Select	NP_000371.1:p.Cys264=
NM_001354975.2:c.666T>C	NP_001341904.1:p.Cys222=
NR_027302.2:n.1071T>C
NR_149091.2:n.568T>C
NR_149092.2:n.734T>C
NR_149093.2:n.1260T>C
NR_149094.2:n.1154T>C