Canonical Allele Identifier: CA374185552

Gene: XPA

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_000380.4:c.682C>G MANE Select	NP_000371.1:p.Arg228Gly
ENST00000375128.5:c.682C>G MANE Select	ENSP00000364270.5:p.Arg228Gly
NM_000380.3:c.682C>G , LRG_471t1:c.682C>G	NP_000371.1:p.Arg228Gly
NM_001354975.1:c.556C>G	NP_001341904.1:p.Arg186Gly
NM_001354975.2:c.556C>G	NP_001341904.1:p.Arg186Gly
NR_027302.1:n.1030C>G
NR_027302.2:n.961C>G
NR_149091.1:n.527C>G
NR_149091.2:n.458C>G
NR_149092.1:n.693C>G
NR_149092.2:n.624C>G
NR_149093.1:n.1219C>G
NR_149093.2:n.1150C>G
NR_149094.1:n.1113C>G
NR_149094.2:n.1044C>G
ENST00000375128.4:c.682C>G	ENSP00000364270.4:p.Arg228Gly
ENST00000462523.5:c.*118C>G	ENSP00000433006.1:n.*118C>G
ENST00000485042.1:n.194C>G
XM_006717278.1:c.682C>G	XP_006717341.1:p.Arg228Gly
XM_011518988.1:c.682C>G	XP_011517290.1:p.Arg228Gly
XR_929839.1:n.1213C>G