Canonical Allele Identifier: CA196745388

Gene: XPA

Linked Data

• dbSNP Id: rs762954875
• gnomAD v3: 9-97675778-G-A
• gnomAD v4: 9-97675778-G-A
• MyVariant Identifiers: chr9:g.100438060G>A (hg19) ; chr9:g.97675778G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675778G>A , CM000671.2:g.97675778G>A	GRCh38
NC_000009.11:g.100438060G>A , CM000671.1:g.100438060G>A	GRCh37
NC_000009.10:g.99477881G>A	NCBI36
NG_011642.1:g.26632C>T , LRG_471:g.26632C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.674-191C>T MANE Select	ENSP00000364270.5:n.674-191C>T
ENST00000375128.4:c.674-191C>T	ENSP00000364270.4:n.674-191C>T
ENST00000462523.5:c.*110-191C>T	ENSP00000433006.1:n.*110-191C>T
ENST00000485042.1:n.178C>T
NM_000380.3:c.674-191C>T , LRG_471t1:c.674-191C>T	NP_000371.1:n.674-191C>T
NR_027302.1:n.1022-191C>T
XM_006717278.1:c.674-191C>T	XP_006717341.1:n.674-191C>T
XM_011518988.1:c.674-191C>T	XP_011517290.1:n.674-191C>T
XR_929839.1:n.1197C>T
NM_001354975.1:c.548-191C>T	NP_001341904.1:n.548-191C>T
NR_149091.1:n.519-191C>T
NR_149092.1:n.685-191C>T
NR_149093.1:n.1203C>T
NR_149094.1:n.1097C>T
NM_000380.4:c.674-191C>T MANE Select	NP_000371.1:n.674-191C>T
NM_001354975.2:c.548-191C>T	NP_001341904.1:n.548-191C>T
NR_027302.2:n.953-191C>T
NR_149091.2:n.450-191C>T
NR_149092.2:n.616-191C>T
NR_149093.2:n.1134C>T
NR_149094.2:n.1028C>T