Canonical Allele Identifier: CA376708145

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49460435-T-G
• MyVariant Identifiers: chr10:g.50668481T>G (hg19) ; chr10:g.49460435T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460435T>G , CM000672.2:g.49460435T>G	GRCh38
NC_000010.10:g.50668481T>G , CM000672.1:g.50668481T>G	GRCh37
NC_000010.9:g.50338487T>G	NCBI36
NG_009442.1:g.83667A>C , LRG_465:g.83667A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4000A>C MANE Select	ENSP00000348089.5:p.Lys1334Gln
ENST00000679552.1:n.1071A>C
ENST00000679871.1:n.1146A>C
ENST00000679974.1:n.1049A>C
ENST00000681632.1:n.5403A>C
ENST00000681659.1:c.3841A>C	ENSP00000505631.1:p.Lys1281Gln
ENST00000355832.9:c.4000A>C	ENSP00000348089.5:p.Lys1334Gln
ENST00000465653.1:n.322A>C
ENST00000623073.3:c.*2296A>C	ENSP00000485650.1:n.*2296A>C
ENST00000623115.3:c.2110A>C	ENSP00000485321.1:p.Lys704Gln
ENST00000624341.3:c.1832A>C
NM_000124.3:c.4000A>C	NP_000115.1:p.Lys1334Gln
XR_945953.1:n.243-11130T>G
NM_001346440.1:c.4000A>C	NP_001333369.1:p.Lys1334Gln
NM_000124.4:c.4000A>C MANE Select	NP_000115.1:p.Lys1334Gln
NM_001346440.2:c.4000A>C	NP_001333369.1:p.Lys1334Gln