Canonical Allele Identifier: CA374185261

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437729T>C (hg19) ; chr9:g.97675447T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675447T>C , CM000671.2:g.97675447T>C	GRCh38
NC_000009.11:g.100437729T>C , CM000671.1:g.100437729T>C	GRCh37
NC_000009.10:g.99477550T>C	NCBI36
NG_011642.1:g.26963A>G , LRG_471:g.26963A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.814A>G MANE Select	ENSP00000364270.5:p.Lys272Glu
ENST00000375128.4:c.814A>G	ENSP00000364270.4:p.Lys272Glu
ENST00000462523.5:c.*250A>G	ENSP00000433006.1:n.*250A>G
ENST00000485042.1:n.326A>G
NM_000380.3:c.814A>G , LRG_471t1:c.814A>G	NP_000371.1:p.Lys272Glu
NR_027302.1:n.1162A>G
XM_006717278.1:c.772+42A>G	XP_006717341.1:n.772+42A>G
XM_011518988.1:c.772+42A>G	XP_011517290.1:n.772+42A>G
NM_001354975.1:c.688A>G	NP_001341904.1:p.Lys230Glu
NR_149091.1:n.659A>G
NR_149092.1:n.825A>G
NR_149093.1:n.1351A>G
NR_149094.1:n.1245A>G
NM_000380.4:c.814A>G MANE Select	NP_000371.1:p.Lys272Glu
NM_001354975.2:c.688A>G	NP_001341904.1:p.Lys230Glu
NR_027302.2:n.1093A>G
NR_149091.2:n.590A>G
NR_149092.2:n.756A>G
NR_149093.2:n.1282A>G
NR_149094.2:n.1176A>G