Canonical Allele Identifier: CA376726409

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49493127-G-T
• MyVariant Identifiers: chr10:g.50701173G>T (hg19) ; chr10:g.49493127G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493127G>T , CM000672.2:g.49493127G>T	GRCh38
NC_000010.10:g.50701173G>T , CM000672.1:g.50701173G>T	GRCh37
NC_000010.9:g.50371179G>T	NCBI36
NG_009442.1:g.50975C>A , LRG_465:g.50975C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1811C>A MANE Select	ENSP00000348089.5:p.Thr604Asn
ENST00000681632.1:n.1889C>A
ENST00000681659.1:c.1652C>A	ENSP00000505631.1:p.Thr551Asn
ENST00000355832.9:c.1811C>A	ENSP00000348089.5:p.Thr604Asn
ENST00000475116.1:n.275+7411C>A
ENST00000623073.3:c.212C>A	ENSP00000485650.1:p.Thr71Asn
ENST00000623115.3:c.-70+7411C>A	ENSP00000485321.1:n.-70+7411C>A
ENST00000623318.1:c.212C>A	ENSP00000485423.1:p.Thr71Asn
NM_000124.3:c.1811C>A	NP_000115.1:p.Thr604Asn
NM_001346440.1:c.1811C>A	NP_001333369.1:p.Thr604Asn
NM_000124.4:c.1811C>A MANE Select	NP_000115.1:p.Thr604Asn
NM_001346440.2:c.1811C>A	NP_001333369.1:p.Thr604Asn