Canonical Allele Identifier: CA374185483

Gene: XPA

Linked Data

• dbSNP Id: rs1355504770
• gnomAD v3: 9-97675548-T-C
• gnomAD v4: 9-97675548-T-C
• MyVariant Identifiers: chr9:g.100437830T>C (hg19) ; chr9:g.97675548T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675548T>C , CM000671.2:g.97675548T>C	GRCh38
NC_000009.11:g.100437830T>C , CM000671.1:g.100437830T>C	GRCh37
NC_000009.10:g.99477651T>C	NCBI36
NG_011642.1:g.26862A>G , LRG_471:g.26862A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.713A>G MANE Select	ENSP00000364270.5:p.Glu238Gly
ENST00000375128.4:c.713A>G	ENSP00000364270.4:p.Glu238Gly
ENST00000462523.5:c.*149A>G	ENSP00000433006.1:n.*149A>G
ENST00000485042.1:n.225A>G
NM_000380.3:c.713A>G , LRG_471t1:c.713A>G	NP_000371.1:p.Glu238Gly
NR_027302.1:n.1061A>G
XM_006717278.1:c.713A>G	XP_006717341.1:p.Glu238Gly
XM_011518988.1:c.713A>G	XP_011517290.1:p.Glu238Gly
XR_929839.1:n.1244A>G
NM_001354975.1:c.587A>G	NP_001341904.1:p.Glu196Gly
NR_149091.1:n.558A>G
NR_149092.1:n.724A>G
NR_149093.1:n.1250A>G
NR_149094.1:n.1144A>G
NM_000380.4:c.713A>G MANE Select	NP_000371.1:p.Glu238Gly
NM_001354975.2:c.587A>G	NP_001341904.1:p.Glu196Gly
NR_027302.2:n.992A>G
NR_149091.2:n.489A>G
NR_149092.2:n.655A>G
NR_149093.2:n.1181A>G
NR_149094.2:n.1075A>G