Canonical Allele Identifier: CA2609135365

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49460338-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460338C>A , CM000672.2:g.49460338C>A	GRCh38
NC_000010.10:g.50668384C>A , CM000672.1:g.50668384C>A	GRCh37
NC_000010.9:g.50338390C>A	NCBI36
NG_009442.1:g.83764G>T , LRG_465:g.83764G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4062+35G>T MANE Select	ENSP00000348089.5:n.4062+35G>T
ENST00000679552.1:n.1168G>T
ENST00000679871.1:n.1208+35G>T
ENST00000679974.1:n.1111+35G>T
ENST00000681632.1:n.5465+35G>T
ENST00000681659.1:c.3903+35G>T	ENSP00000505631.1:n.3903+35G>T
ENST00000355832.9:c.4062+35G>T	ENSP00000348089.5:n.4062+35G>T
ENST00000465653.1:n.419G>T
ENST00000623073.3:c.*2358+35G>T	ENSP00000485650.1:n.*2358+35G>T
ENST00000623115.3:c.2172+35G>T	ENSP00000485321.1:n.2172+35G>T
ENST00000624341.3:c.1894+35G>T
NM_000124.3:c.4062+35G>T	NP_000115.1:n.4062+35G>T
XR_945953.1:n.243-11227C>A
NM_001346440.1:c.4062+35G>T	NP_001333369.1:n.4062+35G>T
NM_000124.4:c.4062+35G>T MANE Select	NP_000115.1:n.4062+35G>T
NM_001346440.2:c.4062+35G>T	NP_001333369.1:n.4062+35G>T