Canonical Allele Identifier: CA466174792

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437748G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675466G>T , CM000671.2:g.97675466G>T	GRCh38
NC_000009.11:g.100437748G>T , CM000671.1:g.100437748G>T	GRCh37
NC_000009.10:g.99477569G>T	NCBI36
NG_011642.1:g.26944C>A , LRG_471:g.26944C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.795C>A MANE Select	ENSP00000364270.5:p.Gly265=
ENST00000375128.4:c.795C>A	ENSP00000364270.4:p.Gly265=
ENST00000462523.5:c.*231C>A	ENSP00000433006.1:n.*231C>A
ENST00000485042.1:n.307C>A
NM_000380.3:c.795C>A , LRG_471t1:c.795C>A	NP_000371.1:p.Gly265=
NR_027302.1:n.1143C>A
XM_006717278.1:c.772+23C>A	XP_006717341.1:n.772+23C>A
XM_011518988.1:c.772+23C>A	XP_011517290.1:n.772+23C>A
NM_001354975.1:c.669C>A	NP_001341904.1:p.Gly223=
NR_149091.1:n.640C>A
NR_149092.1:n.806C>A
NR_149093.1:n.1332C>A
NR_149094.1:n.1226C>A
NM_000380.4:c.795C>A MANE Select	NP_000371.1:p.Gly265=
NM_001354975.2:c.669C>A	NP_001341904.1:p.Gly223=
NR_027302.2:n.1074C>A
NR_149091.2:n.571C>A
NR_149092.2:n.737C>A
NR_149093.2:n.1263C>A
NR_149094.2:n.1157C>A