Canonical Allele Identifier: CA374185506

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437839C>A (hg19) ; chr9:g.97675557C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675557C>A , CM000671.2:g.97675557C>A	GRCh38
NC_000009.11:g.100437839C>A , CM000671.1:g.100437839C>A	GRCh37
NC_000009.10:g.99477660C>A	NCBI36
NG_011642.1:g.26853G>T , LRG_471:g.26853G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.704G>T MANE Select	ENSP00000364270.5:p.Trp235Leu
ENST00000375128.4:c.704G>T	ENSP00000364270.4:p.Trp235Leu
ENST00000462523.5:c.*140G>T	ENSP00000433006.1:n.*140G>T
ENST00000485042.1:n.216G>T
NM_000380.3:c.704G>T , LRG_471t1:c.704G>T	NP_000371.1:p.Trp235Leu
NR_027302.1:n.1052G>T
XM_006717278.1:c.704G>T	XP_006717341.1:p.Trp235Leu
XM_011518988.1:c.704G>T	XP_011517290.1:p.Trp235Leu
XR_929839.1:n.1235G>T
NM_001354975.1:c.578G>T	NP_001341904.1:p.Trp193Leu
NR_149091.1:n.549G>T
NR_149092.1:n.715G>T
NR_149093.1:n.1241G>T
NR_149094.1:n.1135G>T
NM_000380.4:c.704G>T MANE Select	NP_000371.1:p.Trp235Leu
NM_001354975.2:c.578G>T	NP_001341904.1:p.Trp193Leu
NR_027302.2:n.983G>T
NR_149091.2:n.480G>T
NR_149092.2:n.646G>T
NR_149093.2:n.1172G>T
NR_149094.2:n.1066G>T