Canonical Allele Identifier: CA374185374

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437781A>C (hg19) ; chr9:g.97675499A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675499A>C , CM000671.2:g.97675499A>C	GRCh38
NC_000009.11:g.100437781A>C , CM000671.1:g.100437781A>C	GRCh37
NC_000009.10:g.99477602A>C	NCBI36
NG_011642.1:g.26911T>G , LRG_471:g.26911T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.762T>G MANE Select	ENSP00000364270.5:p.Asp254Glu
ENST00000375128.4:c.762T>G	ENSP00000364270.4:p.Asp254Glu
ENST00000462523.5:c.*198T>G	ENSP00000433006.1:n.*198T>G
ENST00000485042.1:n.274T>G
NM_000380.3:c.762T>G , LRG_471t1:c.762T>G	NP_000371.1:p.Asp254Glu
NR_027302.1:n.1110T>G
XM_006717278.1:c.762T>G	XP_006717341.1:p.Asp254Glu
XM_011518988.1:c.762T>G	XP_011517290.1:p.Asp254Glu
XR_929839.1:n.1293T>G
NM_001354975.1:c.636T>G	NP_001341904.1:p.Asp212Glu
NR_149091.1:n.607T>G
NR_149092.1:n.773T>G
NR_149093.1:n.1299T>G
NR_149094.1:n.1193T>G
NM_000380.4:c.762T>G MANE Select	NP_000371.1:p.Asp254Glu
NM_001354975.2:c.636T>G	NP_001341904.1:p.Asp212Glu
NR_027302.2:n.1041T>G
NR_149091.2:n.538T>G
NR_149092.2:n.704T>G
NR_149093.2:n.1230T>G
NR_149094.2:n.1124T>G