Canonical Allele Identifier: CA928210094

Gene: ERCC6

Linked Data

• dbSNP Id: rs759987640
• gnomAD v3: 10-49472498-A-C
• gnomAD v4: 10-49472498-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472498A>C , CM000672.2:g.49472498A>C	GRCh38
NC_000010.10:g.50680544A>C , CM000672.1:g.50680544A>C	GRCh37
NC_000010.9:g.50350550A>C	NCBI36
NG_009442.1:g.71604T>G , LRG_465:g.71604T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2830-28T>G MANE Select	ENSP00000348089.5:n.2830-28T>G
ENST00000681632.1:n.4205T>G
ENST00000681659.1:c.2671-28T>G	ENSP00000505631.1:n.2671-28T>G
ENST00000355832.9:c.2830-28T>G	ENSP00000348089.5:n.2830-28T>G
ENST00000623073.3:c.*1126-28T>G	ENSP00000485650.1:n.*1126-28T>G
ENST00000623115.3:c.940-28T>G	ENSP00000485321.1:n.940-28T>G
ENST00000624341.3:c.662-28T>G
NM_000124.3:c.2830-28T>G	NP_000115.1:n.2830-28T>G
XR_945953.1:n.690-205A>C
NM_001346440.1:c.2830-28T>G	NP_001333369.1:n.2830-28T>G
NM_000124.4:c.2830-28T>G MANE Select	NP_000115.1:n.2830-28T>G
NM_001346440.2:c.2830-28T>G	NP_001333369.1:n.2830-28T>G