Canonical Allele Identifier: CA196745392

Gene: XPA

Linked Data

• dbSNP Id: rs772313002
• gnomAD v2: 9-100438063-C-T
• gnomAD v3: 9-97675781-C-T
• gnomAD v4: 9-97675781-C-T
• MyVariant Identifiers: chr9:g.100438063C>T (hg19) ; chr9:g.97675781C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675781C>T , CM000671.2:g.97675781C>T	GRCh38
NC_000009.11:g.100438063C>T , CM000671.1:g.100438063C>T	GRCh37
NC_000009.10:g.99477884C>T	NCBI36
NG_011642.1:g.26629G>A , LRG_471:g.26629G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.674-194G>A MANE Select	ENSP00000364270.5:n.674-194G>A
ENST00000375128.4:c.674-194G>A	ENSP00000364270.4:n.674-194G>A
ENST00000462523.5:c.*110-194G>A	ENSP00000433006.1:n.*110-194G>A
ENST00000485042.1:n.175G>A
NM_000380.3:c.674-194G>A , LRG_471t1:c.674-194G>A	NP_000371.1:n.674-194G>A
NR_027302.1:n.1022-194G>A
XM_006717278.1:c.674-194G>A	XP_006717341.1:n.674-194G>A
XM_011518988.1:c.674-194G>A	XP_011517290.1:n.674-194G>A
XR_929839.1:n.1194G>A
NM_001354975.1:c.548-194G>A	NP_001341904.1:n.548-194G>A
NR_149091.1:n.519-194G>A
NR_149092.1:n.685-194G>A
NR_149093.1:n.1200G>A
NR_149094.1:n.1094G>A
NM_000380.4:c.674-194G>A MANE Select	NP_000371.1:n.674-194G>A
NM_001354975.2:c.548-194G>A	NP_001341904.1:n.548-194G>A
NR_027302.2:n.953-194G>A
NR_149091.2:n.450-194G>A
NR_149092.2:n.616-194G>A
NR_149093.2:n.1131G>A
NR_149094.2:n.1025G>A