Canonical Allele Identifier: CA466174833

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437841C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675559C>G , CM000671.2:g.97675559C>G	GRCh38
NC_000009.11:g.100437841C>G , CM000671.1:g.100437841C>G	GRCh37
NC_000009.10:g.99477662C>G	NCBI36
NG_011642.1:g.26851G>C , LRG_471:g.26851G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.702G>C MANE Select	ENSP00000364270.5:p.Val234=
ENST00000375128.4:c.702G>C	ENSP00000364270.4:p.Val234=
ENST00000462523.5:c.*138G>C	ENSP00000433006.1:n.*138G>C
ENST00000485042.1:n.214G>C
NM_000380.3:c.702G>C , LRG_471t1:c.702G>C	NP_000371.1:p.Val234=
NR_027302.1:n.1050G>C
XM_006717278.1:c.702G>C	XP_006717341.1:p.Val234=
XM_011518988.1:c.702G>C	XP_011517290.1:p.Val234=
XR_929839.1:n.1233G>C
NM_001354975.1:c.576G>C	NP_001341904.1:p.Val192=
NR_149091.1:n.547G>C
NR_149092.1:n.713G>C
NR_149093.1:n.1239G>C
NR_149094.1:n.1133G>C
NM_000380.4:c.702G>C MANE Select	NP_000371.1:p.Val234=
NM_001354975.2:c.576G>C	NP_001341904.1:p.Val192=
NR_027302.2:n.981G>C
NR_149091.2:n.478G>C
NR_149092.2:n.644G>C
NR_149093.2:n.1170G>C
NR_149094.2:n.1064G>C