Canonical Allele Identifier: CA928211976

Gene: ERCC6

Linked Data

• dbSNP Id: rs1851199188
• gnomAD v3: 10-49492854-C-A
• gnomAD v4: 10-49492854-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49492854C>A , CM000672.2:g.49492854C>A	GRCh38
NC_000010.10:g.50700900C>A , CM000672.1:g.50700900C>A	GRCh37
NC_000010.9:g.50370906C>A	NCBI36
NG_009442.1:g.51248G>T , LRG_465:g.51248G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1821+263G>T MANE Select	ENSP00000348089.5:n.1821+263G>T
ENST00000681632.1:n.1899+263G>T
ENST00000681659.1:c.1662+263G>T	ENSP00000505631.1:n.1662+263G>T
ENST00000355832.9:c.1821+263G>T	ENSP00000348089.5:n.1821+263G>T
ENST00000475116.1:n.275+7684G>T
ENST00000623073.3:c.222+263G>T	ENSP00000485650.1:n.222+263G>T
ENST00000623115.3:c.-70+7684G>T	ENSP00000485321.1:n.-70+7684G>T
ENST00000623318.1:c.222+263G>T	ENSP00000485423.1:n.222+263G>T
NM_000124.3:c.1821+263G>T	NP_000115.1:n.1821+263G>T
NM_001346440.1:c.1821+263G>T	NP_001333369.1:n.1821+263G>T
NM_000124.4:c.1821+263G>T MANE Select	NP_000115.1:n.1821+263G>T
NM_001346440.2:c.1821+263G>T	NP_001333369.1:n.1821+263G>T