Canonical Allele Identifier: CA5495887

Gene: ERCC6

Linked Data

• dbSNP Id: rs780742421
• ExAC: 10:50701282 G / A
• gnomAD v2: 10-50701282-G-A
• gnomAD v3: 10-49493236-G-A
• gnomAD v4: 10-49493236-G-A
• MyVariant Identifiers: chr10:g.50701282G>A (hg19) ; chr10:g.49493236G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493236G>A , CM000672.2:g.49493236G>A	GRCh38
NC_000010.10:g.50701282G>A , CM000672.1:g.50701282G>A	GRCh37
NC_000010.9:g.50371288G>A	NCBI36
NG_009442.1:g.50866C>T , LRG_465:g.50866C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1702C>T MANE Select	ENSP00000348089.5:p.Pro568Ser
ENST00000681632.1:n.1780C>T
ENST00000681659.1:c.1543C>T	ENSP00000505631.1:p.Pro515Ser
ENST00000355832.9:c.1702C>T	ENSP00000348089.5:p.Pro568Ser
ENST00000475116.1:n.275+7302C>T
ENST00000623073.3:c.103C>T	ENSP00000485650.1:p.Pro35Ser
ENST00000623115.3:c.-70+7302C>T	ENSP00000485321.1:n.-70+7302C>T
ENST00000623318.1:c.103C>T	ENSP00000485423.1:p.Pro35Ser
NM_000124.3:c.1702C>T	NP_000115.1:p.Pro568Ser
NM_001346440.1:c.1702C>T	NP_001333369.1:p.Pro568Ser
NM_000124.4:c.1702C>T MANE Select	NP_000115.1:p.Pro568Ser
NM_001346440.2:c.1702C>T	NP_001333369.1:p.Pro568Ser