Canonical Allele Identifier: CA374185243

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437722C>G (hg19) ; chr9:g.97675440C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675440C>G , CM000671.2:g.97675440C>G	GRCh38
NC_000009.11:g.100437722C>G , CM000671.1:g.100437722C>G	GRCh37
NC_000009.10:g.99477543C>G	NCBI36
NG_011642.1:g.26970G>C , LRG_471:g.26970G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.821G>C MANE Select	ENSP00000364270.5:p.Ter274Ser
ENST00000375128.4:c.821G>C	ENSP00000364270.4:p.Ter274Ser
ENST00000462523.5:c.*257G>C	ENSP00000433006.1:n.*257G>C
ENST00000485042.1:n.333G>C
NM_000380.3:c.821G>C , LRG_471t1:c.821G>C	NP_000371.1:p.Ter274Ser
NR_027302.1:n.1169G>C
XM_006717278.1:c.772+49G>C	XP_006717341.1:n.772+49G>C
XM_011518988.1:c.772+49G>C	XP_011517290.1:n.772+49G>C
NM_001354975.1:c.695G>C	NP_001341904.1:p.Ter232Ser
NR_149091.1:n.666G>C
NR_149092.1:n.832G>C
NR_149093.1:n.1358G>C
NR_149094.1:n.1252G>C
NM_000380.4:c.821G>C MANE Select	NP_000371.1:p.Ter274Ser
NM_001354975.2:c.695G>C	NP_001341904.1:p.Ter232Ser
NR_027302.2:n.1100G>C
NR_149091.2:n.597G>C
NR_149092.2:n.763G>C
NR_149093.2:n.1289G>C
NR_149094.2:n.1183G>C