Canonical Allele Identifier: CA5148774

Gene: XPA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97684965G>A , CM000671.2:g.97684965G>A	GRCh38
NC_000009.11:g.100447247G>A , CM000671.1:g.100447247G>A	GRCh37
NC_000009.10:g.99487068G>A	NCBI36
NG_011642.1:g.17445C>T , LRG_471:g.17445C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000380.4:c.631C>T MANE Select	NP_000371.1:p.Arg211Ter
ENST00000375128.5:c.631C>T MANE Select	ENSP00000364270.5:p.Arg211Ter
NM_000380.3:c.631C>T , LRG_471t1:c.631C>T	NP_000371.1:p.Arg211Ter
NM_001354975.1:c.505C>T	NP_001341904.1:p.Arg169Ter
NM_001354975.2:c.505C>T	NP_001341904.1:p.Arg169Ter
NR_027302.1:n.748C>T
NR_027302.2:n.679C>T
NR_149091.1:n.476C>T
NR_149091.2:n.407C>T
NR_149092.1:n.642C>T
NR_149092.2:n.573C>T
NR_149093.1:n.748C>T
NR_149093.2:n.679C>T
NR_149094.1:n.642C>T
NR_149094.2:n.573C>T
ENST00000375128.4:c.631C>T	ENSP00000364270.4:p.Arg211Ter
ENST00000462523.5:c.631C>T	ENSP00000433006.1:p.Arg211Ter
ENST00000496104.1:n.425C>T
XM_006717278.1:c.631C>T	XP_006717341.1:p.Arg211Ter
XM_011518988.1:c.631C>T	XP_011517290.1:p.Arg211Ter
XR_929839.1:n.742C>T