Canonical Allele Identifier: CA374185531

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437849T>A (hg19) ; chr9:g.97675567T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675567T>A , CM000671.2:g.97675567T>A	GRCh38
NC_000009.11:g.100437849T>A , CM000671.1:g.100437849T>A	GRCh37
NC_000009.10:g.99477670T>A	NCBI36
NG_011642.1:g.26843A>T , LRG_471:g.26843A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.694A>T MANE Select	ENSP00000364270.5:p.Ser232Cys
ENST00000375128.4:c.694A>T	ENSP00000364270.4:p.Ser232Cys
ENST00000462523.5:c.*130A>T	ENSP00000433006.1:n.*130A>T
ENST00000485042.1:n.206A>T
NM_000380.3:c.694A>T , LRG_471t1:c.694A>T	NP_000371.1:p.Ser232Cys
NR_027302.1:n.1042A>T
XM_006717278.1:c.694A>T	XP_006717341.1:p.Ser232Cys
XM_011518988.1:c.694A>T	XP_011517290.1:p.Ser232Cys
XR_929839.1:n.1225A>T
NM_001354975.1:c.568A>T	NP_001341904.1:p.Ser190Cys
NR_149091.1:n.539A>T
NR_149092.1:n.705A>T
NR_149093.1:n.1231A>T
NR_149094.1:n.1125A>T
NM_000380.4:c.694A>T MANE Select	NP_000371.1:p.Ser232Cys
NM_001354975.2:c.568A>T	NP_001341904.1:p.Ser190Cys
NR_027302.2:n.973A>T
NR_149091.2:n.470A>T
NR_149092.2:n.636A>T
NR_149093.2:n.1162A>T
NR_149094.2:n.1056A>T