Canonical Allele Identifier: CA196741852

Gene: XPA

Linked Data

• dbSNP Id: rs201809387
• MyVariant Identifiers: chr9:g.100437763A>T (hg19) ; chr9:g.97675481A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675481A>T , CM000671.2:g.97675481A>T	GRCh38
NC_000009.11:g.100437763A>T , CM000671.1:g.100437763A>T	GRCh37
NC_000009.10:g.99477584A>T	NCBI36
NG_011642.1:g.26929T>A , LRG_471:g.26929T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.780T>A MANE Select	ENSP00000364270.5:p.Thr260=
ENST00000375128.4:c.780T>A	ENSP00000364270.4:p.Thr260=
ENST00000462523.5:c.*216T>A	ENSP00000433006.1:n.*216T>A
ENST00000485042.1:n.292T>A
NM_000380.3:c.780T>A , LRG_471t1:c.780T>A	NP_000371.1:p.Thr260=
NR_027302.1:n.1128T>A
XM_006717278.1:c.772+8T>A	XP_006717341.1:n.772+8T>A
XM_011518988.1:c.772+8T>A	XP_011517290.1:n.772+8T>A
NM_001354975.1:c.654T>A	NP_001341904.1:p.Thr218=
NR_149091.1:n.625T>A
NR_149092.1:n.791T>A
NR_149093.1:n.1317T>A
NR_149094.1:n.1211T>A
NM_000380.4:c.780T>A MANE Select	NP_000371.1:p.Thr260=
NM_001354975.2:c.654T>A	NP_001341904.1:p.Thr218=
NR_027302.2:n.1059T>A
NR_149091.2:n.556T>A
NR_149092.2:n.722T>A
NR_149093.2:n.1248T>A
NR_149094.2:n.1142T>A