Canonical Allele Identifier: CA2609135847

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49493370-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493370T>C , CM000672.2:g.49493370T>C	GRCh38
NC_000010.10:g.50701416T>C , CM000672.1:g.50701416T>C	GRCh37
NC_000010.9:g.50371422T>C	NCBI36
NG_009442.1:g.50732A>G , LRG_465:g.50732A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1686-118A>G MANE Select	ENSP00000348089.5:n.1686-118A>G
ENST00000681632.1:n.1764-118A>G
ENST00000681659.1:c.1527-118A>G	ENSP00000505631.1:n.1527-118A>G
ENST00000355832.9:c.1686-118A>G	ENSP00000348089.5:n.1686-118A>G
ENST00000475116.1:n.275+7168A>G
ENST00000623073.3:c.87-118A>G	ENSP00000485650.1:n.87-118A>G
ENST00000623115.3:c.-70+7168A>G	ENSP00000485321.1:n.-70+7168A>G
ENST00000623318.1:c.87-118A>G	ENSP00000485423.1:n.87-118A>G
NM_000124.3:c.1686-118A>G	NP_000115.1:n.1686-118A>G
NM_001346440.1:c.1686-118A>G	NP_001333369.1:n.1686-118A>G
NM_000124.4:c.1686-118A>G MANE Select	NP_000115.1:n.1686-118A>G
NM_001346440.2:c.1686-118A>G	NP_001333369.1:n.1686-118A>G