Canonical Allele Identifier: CA5148772

Gene: XPA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97684950G>A , CM000671.2:g.97684950G>A	GRCh38
NC_000009.11:g.100447232G>A , CM000671.1:g.100447232G>A	GRCh37
NC_000009.10:g.99487053G>A	NCBI36
NG_011642.1:g.17460C>T , LRG_471:g.17460C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000380.4:c.646C>T MANE Select	NP_000371.1:p.Gln216Ter
ENST00000375128.5:c.646C>T MANE Select	ENSP00000364270.5:p.Gln216Ter
NM_000380.3:c.646C>T , LRG_471t1:c.646C>T	NP_000371.1:p.Gln216Ter
NM_001354975.1:c.520C>T	NP_001341904.1:p.Gln174Ter
NM_001354975.2:c.520C>T	NP_001341904.1:p.Gln174Ter
NR_027302.1:n.763C>T
NR_027302.2:n.694C>T
NR_149091.1:n.491C>T
NR_149091.2:n.422C>T
NR_149092.1:n.657C>T
NR_149092.2:n.588C>T
NR_149093.1:n.763C>T
NR_149093.2:n.694C>T
NR_149094.1:n.657C>T
NR_149094.2:n.588C>T
ENST00000375128.4:c.646C>T	ENSP00000364270.4:p.Gln216Ter
ENST00000462523.5:c.646C>T	ENSP00000433006.1:p.Gln216Ter
XM_006717278.1:c.646C>T	XP_006717341.1:p.Gln216Ter
XM_011518988.1:c.646C>T	XP_011517290.1:p.Gln216Ter
XR_929839.1:n.757C>T