Canonical Allele Identifier: CA376728816

Gene: ERCC6

Linked Data

• dbSNP Id: rs1851339704
• gnomAD v4: 10-49500589-A-G
• MyVariant Identifiers: chr10:g.50708635A>G (hg19) ; chr10:g.49500589A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49500589A>G , CM000672.2:g.49500589A>G	GRCh38
NC_000010.10:g.50708635A>G , CM000672.1:g.50708635A>G	GRCh37
NC_000010.9:g.50378641A>G	NCBI36
NG_009442.1:g.43513T>C , LRG_465:g.43513T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1634T>C MANE Select	ENSP00000348089.5:p.Phe545Ser
ENST00000681632.1:n.1712T>C
ENST00000681659.1:c.1526+5295T>C	ENSP00000505631.1:n.1526+5295T>C
ENST00000355832.9:c.1634T>C	ENSP00000348089.5:p.Phe545Ser
ENST00000475116.1:n.224T>C
ENST00000623073.3:c.35T>C	ENSP00000485650.1:p.Phe12Ser
ENST00000623115.3:c.-121T>C	ENSP00000485321.1:n.-121T>C
ENST00000623318.1:c.35T>C	ENSP00000485423.1:p.Phe12Ser
NM_000124.3:c.1634T>C	NP_000115.1:p.Phe545Ser
NM_001346440.1:c.1634T>C	NP_001333369.1:p.Phe545Ser
NM_000124.4:c.1634T>C MANE Select	NP_000115.1:p.Phe545Ser
NM_001346440.2:c.1634T>C	NP_001333369.1:p.Phe545Ser