Canonical Allele Identifier: CA928219780

Gene: ERCC6

Linked Data

• dbSNP Id: rs1836898724
• gnomAD v3: 10-49514795-G-A
• gnomAD v4: 10-49514795-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49514795G>A , CM000672.2:g.49514795G>A	GRCh38
NC_000010.10:g.50722841G>A , CM000672.1:g.50722841G>A	GRCh37
NC_000010.9:g.50392847G>A	NCBI36
NG_009442.1:g.29307C>T , LRG_465:g.29307C>T
NG_033155.1:g.14487C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1398-8783C>T MANE Select	ENSP00000348089.5:n.1398-8783C>T
ENST00000679811.1:n.1481-8783C>T
ENST00000680107.1:c.*2304C>T	ENSP00000505909.1:n.*2304C>T
ENST00000681632.1:n.1476-8783C>T
ENST00000681659.1:c.1398-8783C>T	ENSP00000505631.1:n.1398-8783C>T
ENST00000355832.9:c.1398-8783C>T	ENSP00000348089.5:n.1398-8783C>T
NM_000124.3:c.1398-8783C>T	NP_000115.1:n.1398-8783C>T
NM_001346440.1:c.1398-8783C>T	NP_001333369.1:n.1398-8783C>T
NM_000124.4:c.1398-8783C>T MANE Select	NP_000115.1:n.1398-8783C>T
NM_001346440.2:c.1398-8783C>T	NP_001333369.1:n.1398-8783C>T