Canonical Allele Identifier: CA374185494

Gene: XPA

Linked Data

• gnomAD v4: 9-97675552-T-C
• MyVariant Identifiers: chr9:g.100437834T>C (hg19) ; chr9:g.97675552T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675552T>C , CM000671.2:g.97675552T>C	GRCh38
NC_000009.11:g.100437834T>C , CM000671.1:g.100437834T>C	GRCh37
NC_000009.10:g.99477655T>C	NCBI36
NG_011642.1:g.26858A>G , LRG_471:g.26858A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.709A>G MANE Select	ENSP00000364270.5:p.Arg237Gly
ENST00000375128.4:c.709A>G	ENSP00000364270.4:p.Arg237Gly
ENST00000462523.5:c.*145A>G	ENSP00000433006.1:n.*145A>G
ENST00000485042.1:n.221A>G
NM_000380.3:c.709A>G , LRG_471t1:c.709A>G	NP_000371.1:p.Arg237Gly
NR_027302.1:n.1057A>G
XM_006717278.1:c.709A>G	XP_006717341.1:p.Arg237Gly
XM_011518988.1:c.709A>G	XP_011517290.1:p.Arg237Gly
XR_929839.1:n.1240A>G
NM_001354975.1:c.583A>G	NP_001341904.1:p.Arg195Gly
NR_149091.1:n.554A>G
NR_149092.1:n.720A>G
NR_149093.1:n.1246A>G
NR_149094.1:n.1140A>G
NM_000380.4:c.709A>G MANE Select	NP_000371.1:p.Arg237Gly
NM_001354975.2:c.583A>G	NP_001341904.1:p.Arg195Gly
NR_027302.2:n.988A>G
NR_149091.2:n.485A>G
NR_149092.2:n.651A>G
NR_149093.2:n.1177A>G
NR_149094.2:n.1071A>G