Canonical Allele Identifier: CA374185465

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437821A>G (hg19) ; chr9:g.97675539A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675539A>G , CM000671.2:g.97675539A>G	GRCh38
NC_000009.11:g.100437821A>G , CM000671.1:g.100437821A>G	GRCh37
NC_000009.10:g.99477642A>G	NCBI36
NG_011642.1:g.26871T>C , LRG_471:g.26871T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.722T>C MANE Select	ENSP00000364270.5:p.Val241Ala
ENST00000375128.4:c.722T>C	ENSP00000364270.4:p.Val241Ala
ENST00000462523.5:c.*158T>C	ENSP00000433006.1:n.*158T>C
ENST00000485042.1:n.234T>C
NM_000380.3:c.722T>C , LRG_471t1:c.722T>C	NP_000371.1:p.Val241Ala
NR_027302.1:n.1070T>C
XM_006717278.1:c.722T>C	XP_006717341.1:p.Val241Ala
XM_011518988.1:c.722T>C	XP_011517290.1:p.Val241Ala
XR_929839.1:n.1253T>C
NM_001354975.1:c.596T>C	NP_001341904.1:p.Val199Ala
NR_149091.1:n.567T>C
NR_149092.1:n.733T>C
NR_149093.1:n.1259T>C
NR_149094.1:n.1153T>C
NM_000380.4:c.722T>C MANE Select	NP_000371.1:p.Val241Ala
NM_001354975.2:c.596T>C	NP_001341904.1:p.Val199Ala
NR_027302.2:n.1001T>C
NR_149091.2:n.498T>C
NR_149092.2:n.664T>C
NR_149093.2:n.1190T>C
NR_149094.2:n.1084T>C