Canonical Allele Identifier: CA374185414

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437798C>A (hg19) ; chr9:g.97675516C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675516C>A , CM000671.2:g.97675516C>A	GRCh38
NC_000009.11:g.100437798C>A , CM000671.1:g.100437798C>A	GRCh37
NC_000009.10:g.99477619C>A	NCBI36
NG_011642.1:g.26894G>T , LRG_471:g.26894G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.745G>T MANE Select	ENSP00000364270.5:p.Glu249Ter
ENST00000375128.4:c.745G>T	ENSP00000364270.4:p.Glu249Ter
ENST00000462523.5:c.*181G>T	ENSP00000433006.1:n.*181G>T
ENST00000485042.1:n.257G>T
NM_000380.3:c.745G>T , LRG_471t1:c.745G>T	NP_000371.1:p.Glu249Ter
NR_027302.1:n.1093G>T
XM_006717278.1:c.745G>T	XP_006717341.1:p.Glu249Ter
XM_011518988.1:c.745G>T	XP_011517290.1:p.Glu249Ter
XR_929839.1:n.1276G>T
NM_001354975.1:c.619G>T	NP_001341904.1:p.Glu207Ter
NR_149091.1:n.590G>T
NR_149092.1:n.756G>T
NR_149093.1:n.1282G>T
NR_149094.1:n.1176G>T
NM_000380.4:c.745G>T MANE Select	NP_000371.1:p.Glu249Ter
NM_001354975.2:c.619G>T	NP_001341904.1:p.Glu207Ter
NR_027302.2:n.1024G>T
NR_149091.2:n.521G>T
NR_149092.2:n.687G>T
NR_149093.2:n.1213G>T
NR_149094.2:n.1107G>T