Canonical Allele Identifier: CA928209299

Gene: ERCC6

Linked Data

• dbSNP Id: rs1850746438
• gnomAD v3: 10-49470145-C-T
• gnomAD v4: 10-49470145-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470145C>T , CM000672.2:g.49470145C>T	GRCh38
NC_000010.10:g.50678191C>T , CM000672.1:g.50678191C>T	GRCh37
NC_000010.9:g.50348197C>T	NCBI36
NG_009442.1:g.73957G>A , LRG_465:g.73957G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3778+37G>A MANE Select	ENSP00000348089.5:n.3778+37G>A
ENST00000679552.1:n.849+37G>A
ENST00000679871.1:n.924+37G>A
ENST00000679974.1:n.827+37G>A
ENST00000681632.1:n.5181+37G>A
ENST00000681659.1:c.3619+37G>A	ENSP00000505631.1:n.3619+37G>A
ENST00000355832.9:c.3778+37G>A	ENSP00000348089.5:n.3778+37G>A
ENST00000465653.1:n.100+37G>A
ENST00000623073.3:c.*2074+37G>A	ENSP00000485650.1:n.*2074+37G>A
ENST00000623115.3:c.1888+37G>A	ENSP00000485321.1:n.1888+37G>A
ENST00000624341.3:c.1610+37G>A
NM_000124.3:c.3778+37G>A	NP_000115.1:n.3778+37G>A
XR_945953.1:n.243-1420C>T
NM_001346440.1:c.3778+37G>A	NP_001333369.1:n.3778+37G>A
NM_000124.4:c.3778+37G>A MANE Select	NP_000115.1:n.3778+37G>A
NM_001346440.2:c.3778+37G>A	NP_001333369.1:n.3778+37G>A