Canonical Allele Identifier: CA374185497

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437836T>A (hg19) ; chr9:g.97675554T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675554T>A , CM000671.2:g.97675554T>A	GRCh38
NC_000009.11:g.100437836T>A , CM000671.1:g.100437836T>A	GRCh37
NC_000009.10:g.99477657T>A	NCBI36
NG_011642.1:g.26856A>T , LRG_471:g.26856A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.707A>T MANE Select	ENSP00000364270.5:p.Lys236Ile
ENST00000375128.4:c.707A>T	ENSP00000364270.4:p.Lys236Ile
ENST00000462523.5:c.*143A>T	ENSP00000433006.1:n.*143A>T
ENST00000485042.1:n.219A>T
NM_000380.3:c.707A>T , LRG_471t1:c.707A>T	NP_000371.1:p.Lys236Ile
NR_027302.1:n.1055A>T
XM_006717278.1:c.707A>T	XP_006717341.1:p.Lys236Ile
XM_011518988.1:c.707A>T	XP_011517290.1:p.Lys236Ile
XR_929839.1:n.1238A>T
NM_001354975.1:c.581A>T	NP_001341904.1:p.Lys194Ile
NR_149091.1:n.552A>T
NR_149092.1:n.718A>T
NR_149093.1:n.1244A>T
NR_149094.1:n.1138A>T
NM_000380.4:c.707A>T MANE Select	NP_000371.1:p.Lys236Ile
NM_001354975.2:c.581A>T	NP_001341904.1:p.Lys194Ile
NR_027302.2:n.986A>T
NR_149091.2:n.483A>T
NR_149092.2:n.649A>T
NR_149093.2:n.1175A>T
NR_149094.2:n.1069A>T