Canonical Allele Identifier: CA374188338

Gene: XPA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97697120C>A , CM000671.2:g.97697120C>A	GRCh38
NC_000009.11:g.100459402C>A , CM000671.1:g.100459402C>A	GRCh37
NC_000009.10:g.99499223C>A	NCBI36
NG_011642.1:g.5290G>T , LRG_471:g.5290G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000380.4:c.172+1G>T MANE Select	NP_000371.1:n.172+1G>T
ENST00000375128.5:c.172+1G>T MANE Select	ENSP00000364270.5:n.172+1G>T
NM_000380.3:c.172+1G>T , LRG_471t1:c.172+1G>T	NP_000371.1:n.172+1G>T
NM_001354975.1:c.-977G>T	NP_001341904.1:n.-977G>T
NM_001354975.2:c.-977G>T	NP_001341904.1:n.-977G>T
NR_027302.1:n.289+1G>T
NR_027302.2:n.220+1G>T
NR_149091.1:n.289+1G>T
NR_149091.2:n.220+1G>T
NR_149092.1:n.289+1G>T
NR_149092.2:n.220+1G>T
NR_149093.1:n.289+1G>T
NR_149093.2:n.220+1G>T
NR_149094.1:n.289+1G>T
NR_149094.2:n.220+1G>T
ENST00000375128.4:c.172+1G>T	ENSP00000364270.4:n.172+1G>T
ENST00000462523.5:c.172+1G>T	ENSP00000433006.1:n.172+1G>T
ENST00000496104.1:n.72+104G>T
XM_006717278.1:c.172+1G>T	XP_006717341.1:n.172+1G>T
XM_011518988.1:c.172+1G>T	XP_011517290.1:n.172+1G>T
XR_929839.1:n.283+1G>T