Canonical Allele Identifier: CA374185341

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437764G>C (hg19) ; chr9:g.97675482G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675482G>C , CM000671.2:g.97675482G>C	GRCh38
NC_000009.11:g.100437764G>C , CM000671.1:g.100437764G>C	GRCh37
NC_000009.10:g.99477585G>C	NCBI36
NG_011642.1:g.26928C>G , LRG_471:g.26928C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.779C>G MANE Select	ENSP00000364270.5:p.Thr260Ser
ENST00000375128.4:c.779C>G	ENSP00000364270.4:p.Thr260Ser
ENST00000462523.5:c.*215C>G	ENSP00000433006.1:n.*215C>G
ENST00000485042.1:n.291C>G
NM_000380.3:c.779C>G , LRG_471t1:c.779C>G	NP_000371.1:p.Thr260Ser
NR_027302.1:n.1127C>G
XM_006717278.1:c.772+7C>G	XP_006717341.1:n.772+7C>G
XM_011518988.1:c.772+7C>G	XP_011517290.1:n.772+7C>G
NM_001354975.1:c.653C>G	NP_001341904.1:p.Thr218Ser
NR_149091.1:n.624C>G
NR_149092.1:n.790C>G
NR_149093.1:n.1316C>G
NR_149094.1:n.1210C>G
NM_000380.4:c.779C>G MANE Select	NP_000371.1:p.Thr260Ser
NM_001354975.2:c.653C>G	NP_001341904.1:p.Thr218Ser
NR_027302.2:n.1058C>G
NR_149091.2:n.555C>G
NR_149092.2:n.721C>G
NR_149093.2:n.1247C>G
NR_149094.2:n.1141C>G