Canonical Allele Identifier: CA374188668

Gene: XPA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97697291A>G , CM000671.2:g.97697291A>G	GRCh38
NC_000009.11:g.100459573A>G , CM000671.1:g.100459573A>G	GRCh37
NC_000009.10:g.99499394A>G	NCBI36
NG_011642.1:g.5119T>C , LRG_471:g.5119T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000380.4:c.2T>C MANE Select	NP_000371.1:p.Met1Thr
ENST00000375128.5:c.2T>C MANE Select	ENSP00000364270.5:p.Met1Thr
NM_000380.3:c.2T>C , LRG_471t1:c.2T>C	NP_000371.1:p.Met1Thr
NM_001354975.1:c.-1148T>C	NP_001341904.1:n.-1148T>C
NM_001354975.2:c.-1148T>C	NP_001341904.1:n.-1148T>C
NR_027302.1:n.119T>C
NR_027302.2:n.50T>C
NR_149091.1:n.119T>C
NR_149091.2:n.50T>C
NR_149092.1:n.119T>C
NR_149092.2:n.50T>C
NR_149093.1:n.119T>C
NR_149093.2:n.50T>C
NR_149094.1:n.119T>C
NR_149094.2:n.50T>C
ENST00000375128.4:c.2T>C	ENSP00000364270.4:p.Met1Thr
ENST00000462523.5:c.2T>C	ENSP00000433006.1:p.Met1Thr
ENST00000496104.1:n.5T>C
XM_006717278.1:c.2T>C	XP_006717341.1:p.Met1Thr
XM_011518988.1:c.2T>C	XP_011517290.1:p.Met1Thr
XR_929839.1:n.113T>C