Canonical Allele Identifier: CA374185404

Gene: XPA

Linked Data

• dbSNP Id: rs1325461880
• gnomAD v2: 9-100437794-T-C
• gnomAD v3: 9-97675512-T-C
• gnomAD v4: 9-97675512-T-C
• MyVariant Identifiers: chr9:g.100437794T>C (hg19) ; chr9:g.97675512T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675512T>C , CM000671.2:g.97675512T>C	GRCh38
NC_000009.11:g.100437794T>C , CM000671.1:g.100437794T>C	GRCh37
NC_000009.10:g.99477615T>C	NCBI36
NG_011642.1:g.26898A>G , LRG_471:g.26898A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.749A>G MANE Select	ENSP00000364270.5:p.Glu250Gly
ENST00000375128.4:c.749A>G	ENSP00000364270.4:p.Glu250Gly
ENST00000462523.5:c.*185A>G	ENSP00000433006.1:n.*185A>G
ENST00000485042.1:n.261A>G
NM_000380.3:c.749A>G , LRG_471t1:c.749A>G	NP_000371.1:p.Glu250Gly
NR_027302.1:n.1097A>G
XM_006717278.1:c.749A>G	XP_006717341.1:p.Glu250Gly
XM_011518988.1:c.749A>G	XP_011517290.1:p.Glu250Gly
XR_929839.1:n.1280A>G
NM_001354975.1:c.623A>G	NP_001341904.1:p.Glu208Gly
NR_149091.1:n.594A>G
NR_149092.1:n.760A>G
NR_149093.1:n.1286A>G
NR_149094.1:n.1180A>G
NM_000380.4:c.749A>G MANE Select	NP_000371.1:p.Glu250Gly
NM_001354975.2:c.623A>G	NP_001341904.1:p.Glu208Gly
NR_027302.2:n.1028A>G
NR_149091.2:n.525A>G
NR_149092.2:n.691A>G
NR_149093.2:n.1217A>G
NR_149094.2:n.1111A>G