Canonical Allele Identifier: CA2609133448

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49470118-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470118C>A , CM000672.2:g.49470118C>A	GRCh38
NC_000010.10:g.50678164C>A , CM000672.1:g.50678164C>A	GRCh37
NC_000010.9:g.50348170C>A	NCBI36
NG_009442.1:g.73984G>T , LRG_465:g.73984G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3778+64G>T MANE Select	ENSP00000348089.5:n.3778+64G>T
ENST00000679552.1:n.849+64G>T
ENST00000679871.1:n.924+64G>T
ENST00000679974.1:n.827+64G>T
ENST00000681632.1:n.5181+64G>T
ENST00000681659.1:c.3619+64G>T	ENSP00000505631.1:n.3619+64G>T
ENST00000355832.9:c.3778+64G>T	ENSP00000348089.5:n.3778+64G>T
ENST00000465653.1:n.100+64G>T
ENST00000623073.3:c.*2074+64G>T	ENSP00000485650.1:n.*2074+64G>T
ENST00000623115.3:c.1888+64G>T	ENSP00000485321.1:n.1888+64G>T
ENST00000624341.3:c.1610+64G>T
NM_000124.3:c.3778+64G>T	NP_000115.1:n.3778+64G>T
XR_945953.1:n.243-1447C>A
NM_001346440.1:c.3778+64G>T	NP_001333369.1:n.3778+64G>T
NM_000124.4:c.3778+64G>T MANE Select	NP_000115.1:n.3778+64G>T
NM_001346440.2:c.3778+64G>T	NP_001333369.1:n.3778+64G>T