Canonical Allele Identifier: CA666041266

Gene: ERCC6

Linked Data

• dbSNP Id: rs1344158923
• gnomAD v3: 10-49492871-G-A
• gnomAD v4: 10-49492871-G-A
• MyVariant Identifiers: chr10:g.50700917G>A (hg19) ; chr10:g.49492871G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49492871G>A , CM000672.2:g.49492871G>A	GRCh38
NC_000010.10:g.50700917G>A , CM000672.1:g.50700917G>A	GRCh37
NC_000010.9:g.50370923G>A	NCBI36
NG_009442.1:g.51231C>T , LRG_465:g.51231C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1821+246C>T MANE Select	ENSP00000348089.5:n.1821+246C>T
ENST00000681632.1:n.1899+246C>T
ENST00000681659.1:c.1662+246C>T	ENSP00000505631.1:n.1662+246C>T
ENST00000355832.9:c.1821+246C>T	ENSP00000348089.5:n.1821+246C>T
ENST00000475116.1:n.275+7667C>T
ENST00000623073.3:c.222+246C>T	ENSP00000485650.1:n.222+246C>T
ENST00000623115.3:c.-70+7667C>T	ENSP00000485321.1:n.-70+7667C>T
ENST00000623318.1:c.222+246C>T	ENSP00000485423.1:n.222+246C>T
NM_000124.3:c.1821+246C>T	NP_000115.1:n.1821+246C>T
NM_001346440.1:c.1821+246C>T	NP_001333369.1:n.1821+246C>T
NM_000124.4:c.1821+246C>T MANE Select	NP_000115.1:n.1821+246C>T
NM_001346440.2:c.1821+246C>T	NP_001333369.1:n.1821+246C>T