Canonical Allele Identifier: CA374185381

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437783C>T (hg19) ; chr9:g.97675501C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675501C>T , CM000671.2:g.97675501C>T	GRCh38
NC_000009.11:g.100437783C>T , CM000671.1:g.100437783C>T	GRCh37
NC_000009.10:g.99477604C>T	NCBI36
NG_011642.1:g.26909G>A , LRG_471:g.26909G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.760G>A MANE Select	ENSP00000364270.5:p.Asp254Asn
ENST00000375128.4:c.760G>A	ENSP00000364270.4:p.Asp254Asn
ENST00000462523.5:c.*196G>A	ENSP00000433006.1:n.*196G>A
ENST00000485042.1:n.272G>A
NM_000380.3:c.760G>A , LRG_471t1:c.760G>A	NP_000371.1:p.Asp254Asn
NR_027302.1:n.1108G>A
XM_006717278.1:c.760G>A	XP_006717341.1:p.Asp254Asn
XM_011518988.1:c.760G>A	XP_011517290.1:p.Asp254Asn
XR_929839.1:n.1291G>A
NM_001354975.1:c.634G>A	NP_001341904.1:p.Asp212Asn
NR_149091.1:n.605G>A
NR_149092.1:n.771G>A
NR_149093.1:n.1297G>A
NR_149094.1:n.1191G>A
NM_000380.4:c.760G>A MANE Select	NP_000371.1:p.Asp254Asn
NM_001354975.2:c.634G>A	NP_001341904.1:p.Asp212Asn
NR_027302.2:n.1039G>A
NR_149091.2:n.536G>A
NR_149092.2:n.702G>A
NR_149093.2:n.1228G>A
NR_149094.2:n.1122G>A