Canonical Allele Identifier: CA593367701

Gene: ERCC6

Linked Data

• dbSNP Id: rs1468712211
• gnomAD v2: 10-50701532-T-G
• gnomAD v3: 10-49493486-T-G
• gnomAD v4: 10-49493486-T-G
• MyVariant Identifiers: chr10:g.50701532T>G (hg19) ; chr10:g.49493486T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493486T>G , CM000672.2:g.49493486T>G	GRCh38
NC_000010.10:g.50701532T>G , CM000672.1:g.50701532T>G	GRCh37
NC_000010.9:g.50371538T>G	NCBI36
NG_009442.1:g.50616A>C , LRG_465:g.50616A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1686-234A>C MANE Select	ENSP00000348089.5:n.1686-234A>C
ENST00000681632.1:n.1764-234A>C
ENST00000681659.1:c.1527-234A>C	ENSP00000505631.1:n.1527-234A>C
ENST00000355832.9:c.1686-234A>C	ENSP00000348089.5:n.1686-234A>C
ENST00000475116.1:n.275+7052A>C
ENST00000623073.3:c.87-234A>C	ENSP00000485650.1:n.87-234A>C
ENST00000623115.3:c.-70+7052A>C	ENSP00000485321.1:n.-70+7052A>C
ENST00000623318.1:c.87-234A>C	ENSP00000485423.1:n.87-234A>C
NM_000124.3:c.1686-234A>C	NP_000115.1:n.1686-234A>C
NM_001346440.1:c.1686-234A>C	NP_001333369.1:n.1686-234A>C
NM_000124.4:c.1686-234A>C MANE Select	NP_000115.1:n.1686-234A>C
NM_001346440.2:c.1686-234A>C	NP_001333369.1:n.1686-234A>C