Canonical Allele Identifier: CA376726681

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49493252-C-A
• MyVariant Identifiers: chr10:g.50701298C>A (hg19) ; chr10:g.49493252C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493252C>A , CM000672.2:g.49493252C>A	GRCh38
NC_000010.10:g.50701298C>A , CM000672.1:g.50701298C>A	GRCh37
NC_000010.9:g.50371304C>A	NCBI36
NG_009442.1:g.50850G>T , LRG_465:g.50850G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1686G>T MANE Select	ENSP00000348089.5:p.Arg562Ser
ENST00000681632.1:n.1764G>T
ENST00000681659.1:c.1527G>T	ENSP00000505631.1:p.Lys509Asn
ENST00000355832.9:c.1686G>T	ENSP00000348089.5:p.Arg562Ser
ENST00000475116.1:n.275+7286G>T
ENST00000623073.3:c.87G>T	ENSP00000485650.1:p.Arg29Ser
ENST00000623115.3:c.-70+7286G>T	ENSP00000485321.1:n.-70+7286G>T
ENST00000623318.1:c.87G>T	ENSP00000485423.1:p.Arg29Ser
NM_000124.3:c.1686G>T	NP_000115.1:p.Arg562Ser
NM_001346440.1:c.1686G>T	NP_001333369.1:p.Arg562Ser
NM_000124.4:c.1686G>T MANE Select	NP_000115.1:p.Arg562Ser
NM_001346440.2:c.1686G>T	NP_001333369.1:p.Arg562Ser