Canonical Allele Identifier: CA196750291

Gene: XPA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97684921A>G , CM000671.2:g.97684921A>G	GRCh38
NC_000009.11:g.100447203A>G , CM000671.1:g.100447203A>G	GRCh37
NC_000009.10:g.99487024A>G	NCBI36
NG_011642.1:g.17489T>C , LRG_471:g.17489T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000380.4:c.673+2T>C MANE Select	NP_000371.1:n.673+2T>C
ENST00000375128.5:c.673+2T>C MANE Select	ENSP00000364270.5:n.673+2T>C
NM_000380.3:c.673+2T>C , LRG_471t1:c.673+2T>C	NP_000371.1:n.673+2T>C
NM_001354975.1:c.547+2T>C	NP_001341904.1:n.547+2T>C
NM_001354975.2:c.547+2T>C	NP_001341904.1:n.547+2T>C
NR_027302.1:n.790+2T>C
NR_027302.2:n.721+2T>C
NR_149091.1:n.518+2T>C
NR_149091.2:n.449+2T>C
NR_149092.1:n.684+2T>C
NR_149092.2:n.615+2T>C
NR_149093.1:n.790+2T>C
NR_149093.2:n.721+2T>C
NR_149094.1:n.684+2T>C
NR_149094.2:n.615+2T>C
ENST00000375128.4:c.673+2T>C	ENSP00000364270.4:n.673+2T>C
ENST00000462523.5:c.673+2T>C	ENSP00000433006.1:n.673+2T>C
XM_006717278.1:c.673+2T>C	XP_006717341.1:n.673+2T>C
XM_011518988.1:c.673+2T>C	XP_011517290.1:n.673+2T>C
XR_929839.1:n.784+2T>C