Canonical Allele Identifier: CA469604493

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49493138-G-T
• MyVariant Identifiers: chr10:g.50701184G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493138G>T , CM000672.2:g.49493138G>T	GRCh38
NC_000010.10:g.50701184G>T , CM000672.1:g.50701184G>T	GRCh37
NC_000010.9:g.50371190G>T	NCBI36
NG_009442.1:g.50964C>A , LRG_465:g.50964C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1800C>A MANE Select	ENSP00000348089.5:p.Thr600=
ENST00000681632.1:n.1878C>A
ENST00000681659.1:c.1641C>A	ENSP00000505631.1:p.Thr547=
ENST00000355832.9:c.1800C>A	ENSP00000348089.5:p.Thr600=
ENST00000475116.1:n.275+7400C>A
ENST00000623073.3:c.201C>A	ENSP00000485650.1:p.Thr67=
ENST00000623115.3:c.-70+7400C>A	ENSP00000485321.1:n.-70+7400C>A
ENST00000623318.1:c.201C>A	ENSP00000485423.1:p.Thr67=
NM_000124.3:c.1800C>A	NP_000115.1:p.Thr600=
NM_001346440.1:c.1800C>A	NP_001333369.1:p.Thr600=
NM_000124.4:c.1800C>A MANE Select	NP_000115.1:p.Thr600=
NM_001346440.2:c.1800C>A	NP_001333369.1:p.Thr600=