Canonical Allele Identifier: CA2588690421

Gene: ERCC6

Linked Data

• dbSNP Id: rs1278662531
• gnomAD v3: 10-49514756-C-A
• gnomAD v4: 10-49514756-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49514756C>A , CM000672.2:g.49514756C>A	GRCh38
NC_000010.10:g.50722802C>A , CM000672.1:g.50722802C>A	GRCh37
NC_000010.9:g.50392808C>A	NCBI36
NG_009442.1:g.29346G>T , LRG_465:g.29346G>T
NG_033155.1:g.14526G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1398-8744G>T MANE Select	ENSP00000348089.5:n.1398-8744G>T
ENST00000679811.1:n.1481-8744G>T
ENST00000680107.1:c.*2343G>T	ENSP00000505909.1:n.*2343G>T
ENST00000681632.1:n.1476-8744G>T
ENST00000681659.1:c.1398-8744G>T	ENSP00000505631.1:n.1398-8744G>T
ENST00000355832.9:c.1398-8744G>T	ENSP00000348089.5:n.1398-8744G>T
NM_000124.3:c.1398-8744G>T	NP_000115.1:n.1398-8744G>T
NM_001346440.1:c.1398-8744G>T	NP_001333369.1:n.1398-8744G>T
NM_000124.4:c.1398-8744G>T MANE Select	NP_000115.1:n.1398-8744G>T
NM_001346440.2:c.1398-8744G>T	NP_001333369.1:n.1398-8744G>T