Canonical Allele Identifier: CA1866632306

Gene: XPA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675579G= , CM000671.2:g.97675579G=	GRCh38
NC_000009.11:g.100437861G= , CM000671.1:g.100437861G=	GRCh37
NC_000009.10:g.99477682G=	NCBI36
NG_011642.1:g.26831C= , LRG_471:g.26831C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000380.4:c.682C= MANE Select	NP_000371.1:p.Arg228=
ENST00000375128.5:c.682C= MANE Select	ENSP00000364270.5:p.Arg228=
NM_000380.3:c.682C= , LRG_471t1:c.682C=	NP_000371.1:p.Arg228=
NM_001354975.1:c.556C=	NP_001341904.1:p.Arg186=
NM_001354975.2:c.556C=	NP_001341904.1:p.Arg186=
NR_027302.1:n.1030C=
NR_027302.2:n.961C=
NR_149091.1:n.527C=
NR_149091.2:n.458C=
NR_149092.1:n.693C=
NR_149092.2:n.624C=
NR_149093.1:n.1219C=
NR_149093.2:n.1150C=
NR_149094.1:n.1113C=
NR_149094.2:n.1044C=
ENST00000375128.4:c.682C=	ENSP00000364270.4:p.Arg228=
ENST00000462523.5:c.*118C=	ENSP00000433006.1:n.*118C=
ENST00000485042.1:n.194C=
XM_006717278.1:c.682C=	XP_006717341.1:p.Arg228=
XM_011518988.1:c.682C=	XP_011517290.1:p.Arg228=
XR_929839.1:n.1213C=