Canonical Allele Identifier: CA206608264

Gene: ERCC6

Linked Data

• dbSNP Id: rs534541140
• gnomAD v2: 10-50708526-C-T
• gnomAD v3: 10-49500480-C-T
• gnomAD v4: 10-49500480-C-T
• MyVariant Identifiers: chr10:g.50708526C>T (hg19) ; chr10:g.49500480C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49500480C>T , CM000672.2:g.49500480C>T	GRCh38
NC_000010.10:g.50708526C>T , CM000672.1:g.50708526C>T	GRCh37
NC_000010.9:g.50378532C>T	NCBI36
NG_009442.1:g.43622G>A , LRG_465:g.43622G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1685+58G>A MANE Select	ENSP00000348089.5:n.1685+58G>A
ENST00000681632.1:n.1763+58G>A
ENST00000681659.1:c.1526+5404G>A	ENSP00000505631.1:n.1526+5404G>A
ENST00000355832.9:c.1685+58G>A	ENSP00000348089.5:n.1685+58G>A
ENST00000475116.1:n.275+58G>A
ENST00000623073.3:c.86+58G>A	ENSP00000485650.1:n.86+58G>A
ENST00000623115.3:c.-70+58G>A	ENSP00000485321.1:n.-70+58G>A
ENST00000623318.1:c.86+58G>A	ENSP00000485423.1:n.86+58G>A
NM_000124.3:c.1685+58G>A	NP_000115.1:n.1685+58G>A
NM_001346440.1:c.1685+58G>A	NP_001333369.1:n.1685+58G>A
NM_000124.4:c.1685+58G>A MANE Select	NP_000115.1:n.1685+58G>A
NM_001346440.2:c.1685+58G>A	NP_001333369.1:n.1685+58G>A