Canonical Allele Identifier: CA374187512
Community Standard Title: NM_000380.4(XPA):c.451A>T (p.Lys151Ter)
Gene: XPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97687200T>A , CM000671.2:g.97687200T>A GRCh38
NC_000009.11:g.100449482T>A , CM000671.1:g.100449482T>A GRCh37
NC_000009.10:g.99489303T>A NCBI36
NG_011642.1:g.15210A>T , LRG_471:g.15210A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000380.4:c.451A>T MANE Select NP_000371.1:p.Lys151Ter
ENST00000375128.5:c.451A>T MANE Select ENSP00000364270.5:p.Lys151Ter
NM_000380.3:c.451A>T , LRG_471t1:c.451A>T NP_000371.1:p.Lys151Ter
NM_001354975.1:c.325A>T NP_001341904.1:p.Lys109Ter
NM_001354975.2:c.325A>T NP_001341904.1:p.Lys109Ter
NR_027302.1:n.568A>T
NR_027302.2:n.499A>T
NR_149091.1:n.401-2160A>T
NR_149091.2:n.332-2160A>T
NR_149092.1:n.462A>T
NR_149092.2:n.393A>T
NR_149093.1:n.568A>T
NR_149093.2:n.499A>T
NR_149094.1:n.462A>T
NR_149094.2:n.393A>T
ENST00000375128.4:c.451A>T ENSP00000364270.4:p.Lys151Ter
ENST00000462523.5:c.451A>T ENSP00000433006.1:p.Lys151Ter
ENST00000496104.1:n.245A>T
XM_006717278.1:c.451A>T XP_006717341.1:p.Lys151Ter
XM_011518988.1:c.451A>T XP_011517290.1:p.Lys151Ter
XR_929839.1:n.562A>T