Canonical Allele Identifier: CA374188324
Community Standard Title: NM_000380.4(XPA):c.173-2A>G
Gene: XPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97693761T>C , CM000671.2:g.97693761T>C GRCh38
NC_000009.11:g.100456043T>C , CM000671.1:g.100456043T>C GRCh37
NC_000009.10:g.99495864T>C NCBI36
NG_011642.1:g.8649A>G , LRG_471:g.8649A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000380.4:c.173-2A>G MANE Select NP_000371.1:n.173-2A>G
ENST00000375128.5:c.173-2A>G MANE Select ENSP00000364270.5:n.173-2A>G
NM_000380.3:c.173-2A>G , LRG_471t1:c.173-2A>G NP_000371.1:n.173-2A>G
NM_001354975.1:c.47-2A>G NP_001341904.1:n.47-2A>G
NM_001354975.2:c.47-2A>G NP_001341904.1:n.47-2A>G
NR_027302.1:n.290-2A>G
NR_027302.2:n.221-2A>G
NR_149091.1:n.290-2A>G
NR_149091.2:n.221-2A>G
NR_149092.1:n.290-2A>G
NR_149092.2:n.221-2A>G
NR_149093.1:n.290-2A>G
NR_149093.2:n.221-2A>G
NR_149094.1:n.290-2A>G
NR_149094.2:n.221-2A>G
ENST00000375128.4:c.173-2A>G ENSP00000364270.4:n.173-2A>G
ENST00000462523.5:c.173-2A>G ENSP00000433006.1:n.173-2A>G
ENST00000496104.1:n.73-2A>G
XM_006717278.1:c.173-2A>G XP_006717341.1:n.173-2A>G
XM_011518988.1:c.173-2A>G XP_011517290.1:n.173-2A>G
XR_929839.1:n.284-2A>G