Canonical Allele Identifier: CA206583920

Gene: ERCC6

Linked Data

• dbSNP Id: rs892708992
• gnomAD v3: 10-49470042-T-A
• gnomAD v4: 10-49470042-T-A
• MyVariant Identifiers: chr10:g.50678088T>A (hg19) ; chr10:g.49470042T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470042T>A , CM000672.2:g.49470042T>A	GRCh38
NC_000010.10:g.50678088T>A , CM000672.1:g.50678088T>A	GRCh37
NC_000010.9:g.50348094T>A	NCBI36
NG_009442.1:g.74060A>T , LRG_465:g.74060A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3778+140A>T MANE Select	ENSP00000348089.5:n.3778+140A>T
ENST00000679552.1:n.849+140A>T
ENST00000679871.1:n.924+140A>T
ENST00000679974.1:n.827+140A>T
ENST00000681632.1:n.5181+140A>T
ENST00000681659.1:c.3619+140A>T	ENSP00000505631.1:n.3619+140A>T
ENST00000355832.9:c.3778+140A>T	ENSP00000348089.5:n.3778+140A>T
ENST00000465653.1:n.100+140A>T
ENST00000623073.3:c.*2074+140A>T	ENSP00000485650.1:n.*2074+140A>T
ENST00000623115.3:c.1888+140A>T	ENSP00000485321.1:n.1888+140A>T
ENST00000624341.3:c.1610+140A>T
NM_000124.3:c.3778+140A>T	NP_000115.1:n.3778+140A>T
XR_945953.1:n.243-1523T>A
NM_001346440.1:c.3778+140A>T	NP_001333369.1:n.3778+140A>T
NM_000124.4:c.3778+140A>T MANE Select	NP_000115.1:n.3778+140A>T
NM_001346440.2:c.3778+140A>T	NP_001333369.1:n.3778+140A>T