Canonical Allele Identifier: CA1866638611

Gene: XPA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97689575A= , CM000671.2:g.97689575A=	GRCh38
NC_000009.11:g.100451857A= , CM000671.1:g.100451857A=	GRCh37
NC_000009.10:g.99491678A=	NCBI36
NG_011642.1:g.12835T= , LRG_471:g.12835T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000380.4:c.348T= MANE Select	NP_000371.1:p.Tyr116=
ENST00000375128.5:c.348T= MANE Select	ENSP00000364270.5:p.Tyr116=
NM_000380.3:c.348T= , LRG_471t1:c.348T=	NP_000371.1:p.Tyr116=
NM_001354975.1:c.222T=	NP_001341904.1:p.Tyr74=
NM_001354975.2:c.222T=	NP_001341904.1:p.Tyr74=
NR_027302.1:n.465T=
NR_027302.2:n.396T=
NR_149091.1:n.400+4074T=
NR_149091.2:n.331+4074T=
NR_149092.1:n.401-2314T=
NR_149092.2:n.332-2314T=
NR_149093.1:n.465T=
NR_149093.2:n.396T=
NR_149094.1:n.401-2314T=
NR_149094.2:n.332-2314T=
ENST00000375128.4:c.348T=	ENSP00000364270.4:p.Tyr116=
ENST00000462523.5:c.348T=	ENSP00000433006.1:p.Tyr116=
ENST00000496104.1:n.184-2314T=
XM_006717278.1:c.348T=	XP_006717341.1:p.Tyr116=
XM_011518988.1:c.348T=	XP_011517290.1:p.Tyr116=
XR_929839.1:n.459T=