Canonical Allele Identifier: CA376712761

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49470256-T-C
• MyVariant Identifiers: chr10:g.50678302T>C (hg19) ; chr10:g.49470256T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470256T>C , CM000672.2:g.49470256T>C	GRCh38
NC_000010.10:g.50678302T>C , CM000672.1:g.50678302T>C	GRCh37
NC_000010.9:g.50348308T>C	NCBI36
NG_009442.1:g.73846A>G , LRG_465:g.73846A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3704A>G MANE Select	ENSP00000348089.5:p.Asp1235Gly
ENST00000679552.1:n.775A>G
ENST00000679871.1:n.850A>G
ENST00000679974.1:n.753A>G
ENST00000681632.1:n.5107A>G
ENST00000681659.1:c.3545A>G	ENSP00000505631.1:p.Asp1182Gly
ENST00000355832.9:c.3704A>G	ENSP00000348089.5:p.Asp1235Gly
ENST00000465653.1:n.26A>G
ENST00000623073.3:c.*2000A>G	ENSP00000485650.1:n.*2000A>G
ENST00000623115.3:c.1814A>G	ENSP00000485321.1:p.Asp605Gly
ENST00000624341.3:c.1536A>G
NM_000124.3:c.3704A>G	NP_000115.1:p.Asp1235Gly
XR_945953.1:n.243-1309T>C
NM_001346440.1:c.3704A>G	NP_001333369.1:p.Asp1235Gly
NM_000124.4:c.3704A>G MANE Select	NP_000115.1:p.Asp1235Gly
NM_001346440.2:c.3704A>G	NP_001333369.1:p.Asp1235Gly