Canonical Allele Identifier: CA374185486

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437831C>G (hg19) ; chr9:g.97675549C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675549C>G , CM000671.2:g.97675549C>G	GRCh38
NC_000009.11:g.100437831C>G , CM000671.1:g.100437831C>G	GRCh37
NC_000009.10:g.99477652C>G	NCBI36
NG_011642.1:g.26861G>C , LRG_471:g.26861G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.712G>C MANE Select	ENSP00000364270.5:p.Glu238Gln
ENST00000375128.4:c.712G>C	ENSP00000364270.4:p.Glu238Gln
ENST00000462523.5:c.*148G>C	ENSP00000433006.1:n.*148G>C
ENST00000485042.1:n.224G>C
NM_000380.3:c.712G>C , LRG_471t1:c.712G>C	NP_000371.1:p.Glu238Gln
NR_027302.1:n.1060G>C
XM_006717278.1:c.712G>C	XP_006717341.1:p.Glu238Gln
XM_011518988.1:c.712G>C	XP_011517290.1:p.Glu238Gln
XR_929839.1:n.1243G>C
NM_001354975.1:c.586G>C	NP_001341904.1:p.Glu196Gln
NR_149091.1:n.557G>C
NR_149092.1:n.723G>C
NR_149093.1:n.1249G>C
NR_149094.1:n.1143G>C
NM_000380.4:c.712G>C MANE Select	NP_000371.1:p.Glu238Gln
NM_001354975.2:c.586G>C	NP_001341904.1:p.Glu196Gln
NR_027302.2:n.991G>C
NR_149091.2:n.488G>C
NR_149092.2:n.654G>C
NR_149093.2:n.1180G>C
NR_149094.2:n.1074G>C