Canonical Allele Identifier: CA2499354605

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49472372-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472372T>C , CM000672.2:g.49472372T>C	GRCh38
NC_000010.10:g.50680418T>C , CM000672.1:g.50680418T>C	GRCh37
NC_000010.9:g.50350424T>C	NCBI36
NG_009442.1:g.71730A>G , LRG_465:g.71730A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2924+4A>G MANE Select	ENSP00000348089.5:n.2924+4A>G
ENST00000681632.1:n.4327+4A>G
ENST00000681659.1:c.2765+4A>G	ENSP00000505631.1:n.2765+4A>G
ENST00000355832.9:c.2924+4A>G	ENSP00000348089.5:n.2924+4A>G
ENST00000623073.3:c.*1220+4A>G	ENSP00000485650.1:n.*1220+4A>G
ENST00000623115.3:c.1034+4A>G	ENSP00000485321.1:n.1034+4A>G
ENST00000624341.3:c.756+4A>G
NM_000124.3:c.2924+4A>G	NP_000115.1:n.2924+4A>G
XR_945953.1:n.690-331T>C
NM_001346440.1:c.2924+4A>G	NP_001333369.1:n.2924+4A>G
NM_000124.4:c.2924+4A>G MANE Select	NP_000115.1:n.2924+4A>G
NM_001346440.2:c.2924+4A>G	NP_001333369.1:n.2924+4A>G