Canonical Allele Identifier: CA374187069

Gene: XPA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97684997A>C , CM000671.2:g.97684997A>C	GRCh38
NC_000009.11:g.100447279A>C , CM000671.1:g.100447279A>C	GRCh37
NC_000009.10:g.99487100A>C	NCBI36
NG_011642.1:g.17413T>G , LRG_471:g.17413T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000380.4:c.599T>G MANE Select	NP_000371.1:p.Leu200Ter
ENST00000375128.5:c.599T>G MANE Select	ENSP00000364270.5:p.Leu200Ter
NM_000380.3:c.599T>G , LRG_471t1:c.599T>G	NP_000371.1:p.Leu200Ter
NM_001354975.1:c.473T>G	NP_001341904.1:p.Leu158Ter
NM_001354975.2:c.473T>G	NP_001341904.1:p.Leu158Ter
NR_027302.1:n.716T>G
NR_027302.2:n.647T>G
NR_149091.1:n.444T>G
NR_149091.2:n.375T>G
NR_149092.1:n.610T>G
NR_149092.2:n.541T>G
NR_149093.1:n.716T>G
NR_149093.2:n.647T>G
NR_149094.1:n.610T>G
NR_149094.2:n.541T>G
ENST00000375128.4:c.599T>G	ENSP00000364270.4:p.Leu200Ter
ENST00000462523.5:c.599T>G	ENSP00000433006.1:p.Leu200Ter
ENST00000496104.1:n.393T>G
XM_006717278.1:c.599T>G	XP_006717341.1:p.Leu200Ter
XM_011518988.1:c.599T>G	XP_011517290.1:p.Leu200Ter
XR_929839.1:n.710T>G