Canonical Allele Identifier: CA374185550

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437860C>A (hg19) ; chr9:g.97675578C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675578C>A , CM000671.2:g.97675578C>A	GRCh38
NC_000009.11:g.100437860C>A , CM000671.1:g.100437860C>A	GRCh37
NC_000009.10:g.99477681C>A	NCBI36
NG_011642.1:g.26832G>T , LRG_471:g.26832G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.683G>T MANE Select	ENSP00000364270.5:p.Arg228Leu
ENST00000375128.4:c.683G>T	ENSP00000364270.4:p.Arg228Leu
ENST00000462523.5:c.*119G>T	ENSP00000433006.1:n.*119G>T
ENST00000485042.1:n.195G>T
NM_000380.3:c.683G>T , LRG_471t1:c.683G>T	NP_000371.1:p.Arg228Leu
NR_027302.1:n.1031G>T
XM_006717278.1:c.683G>T	XP_006717341.1:p.Arg228Leu
XM_011518988.1:c.683G>T	XP_011517290.1:p.Arg228Leu
XR_929839.1:n.1214G>T
NM_001354975.1:c.557G>T	NP_001341904.1:p.Arg186Leu
NR_149091.1:n.528G>T
NR_149092.1:n.694G>T
NR_149093.1:n.1220G>T
NR_149094.1:n.1114G>T
NM_000380.4:c.683G>T MANE Select	NP_000371.1:p.Arg228Leu
NM_001354975.2:c.557G>T	NP_001341904.1:p.Arg186Leu
NR_027302.2:n.962G>T
NR_149091.2:n.459G>T
NR_149092.2:n.625G>T
NR_149093.2:n.1151G>T
NR_149094.2:n.1045G>T