Canonical Allele Identifier: CA374185392

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437789G>T (hg19) ; chr9:g.97675507G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675507G>T , CM000671.2:g.97675507G>T	GRCh38
NC_000009.11:g.100437789G>T , CM000671.1:g.100437789G>T	GRCh37
NC_000009.10:g.99477610G>T	NCBI36
NG_011642.1:g.26903C>A , LRG_471:g.26903C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.754C>A MANE Select	ENSP00000364270.5:p.Leu252Ile
ENST00000375128.4:c.754C>A	ENSP00000364270.4:p.Leu252Ile
ENST00000462523.5:c.*190C>A	ENSP00000433006.1:n.*190C>A
ENST00000485042.1:n.266C>A
NM_000380.3:c.754C>A , LRG_471t1:c.754C>A	NP_000371.1:p.Leu252Ile
NR_027302.1:n.1102C>A
XM_006717278.1:c.754C>A	XP_006717341.1:p.Leu252Ile
XM_011518988.1:c.754C>A	XP_011517290.1:p.Leu252Ile
XR_929839.1:n.1285C>A
NM_001354975.1:c.628C>A	NP_001341904.1:p.Leu210Ile
NR_149091.1:n.599C>A
NR_149092.1:n.765C>A
NR_149093.1:n.1291C>A
NR_149094.1:n.1185C>A
NM_000380.4:c.754C>A MANE Select	NP_000371.1:p.Leu252Ile
NM_001354975.2:c.628C>A	NP_001341904.1:p.Leu210Ile
NR_027302.2:n.1033C>A
NR_149091.2:n.530C>A
NR_149092.2:n.696C>A
NR_149093.2:n.1222C>A
NR_149094.2:n.1116C>A