Canonical Allele Identifier: CA928212044

Gene: ERCC6

Linked Data

• dbSNP Id: rs1031551714
• gnomAD v3: 10-49493043-G-C
• gnomAD v4: 10-49493043-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493043G>C , CM000672.2:g.49493043G>C	GRCh38
NC_000010.10:g.50701089G>C , CM000672.1:g.50701089G>C	GRCh37
NC_000010.9:g.50371095G>C	NCBI36
NG_009442.1:g.51059C>G , LRG_465:g.51059C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1821+74C>G MANE Select	ENSP00000348089.5:n.1821+74C>G
ENST00000681632.1:n.1899+74C>G
ENST00000681659.1:c.1662+74C>G	ENSP00000505631.1:n.1662+74C>G
ENST00000355832.9:c.1821+74C>G	ENSP00000348089.5:n.1821+74C>G
ENST00000475116.1:n.275+7495C>G
ENST00000623073.3:c.222+74C>G	ENSP00000485650.1:n.222+74C>G
ENST00000623115.3:c.-70+7495C>G	ENSP00000485321.1:n.-70+7495C>G
ENST00000623318.1:c.222+74C>G	ENSP00000485423.1:n.222+74C>G
NM_000124.3:c.1821+74C>G	NP_000115.1:n.1821+74C>G
NM_001346440.1:c.1821+74C>G	NP_001333369.1:n.1821+74C>G
NM_000124.4:c.1821+74C>G MANE Select	NP_000115.1:n.1821+74C>G
NM_001346440.2:c.1821+74C>G	NP_001333369.1:n.1821+74C>G