Canonical Allele Identifier: CA374185400

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437792T>G (hg19) ; chr9:g.97675510T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675510T>G , CM000671.2:g.97675510T>G	GRCh38
NC_000009.11:g.100437792T>G , CM000671.1:g.100437792T>G	GRCh37
NC_000009.10:g.99477613T>G	NCBI36
NG_011642.1:g.26900A>C , LRG_471:g.26900A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.751A>C MANE Select	ENSP00000364270.5:p.Asn251His
ENST00000375128.4:c.751A>C	ENSP00000364270.4:p.Asn251His
ENST00000462523.5:c.*187A>C	ENSP00000433006.1:n.*187A>C
ENST00000485042.1:n.263A>C
NM_000380.3:c.751A>C , LRG_471t1:c.751A>C	NP_000371.1:p.Asn251His
NR_027302.1:n.1099A>C
XM_006717278.1:c.751A>C	XP_006717341.1:p.Asn251His
XM_011518988.1:c.751A>C	XP_011517290.1:p.Asn251His
XR_929839.1:n.1282A>C
NM_001354975.1:c.625A>C	NP_001341904.1:p.Asn209His
NR_149091.1:n.596A>C
NR_149092.1:n.762A>C
NR_149093.1:n.1288A>C
NR_149094.1:n.1182A>C
NM_000380.4:c.751A>C MANE Select	NP_000371.1:p.Asn251His
NM_001354975.2:c.625A>C	NP_001341904.1:p.Asn209His
NR_027302.2:n.1030A>C
NR_149091.2:n.527A>C
NR_149092.2:n.693A>C
NR_149093.2:n.1219A>C
NR_149094.2:n.1113A>C