Canonical Allele Identifier: CA376712768

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678303C>G (hg19) ; chr10:g.49470257C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470257C>G , CM000672.2:g.49470257C>G	GRCh38
NC_000010.10:g.50678303C>G , CM000672.1:g.50678303C>G	GRCh37
NC_000010.9:g.50348309C>G	NCBI36
NG_009442.1:g.73845G>C , LRG_465:g.73845G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3703G>C MANE Select	ENSP00000348089.5:p.Asp1235His
ENST00000679552.1:n.774G>C
ENST00000679871.1:n.849G>C
ENST00000679974.1:n.752G>C
ENST00000681632.1:n.5106G>C
ENST00000681659.1:c.3544G>C	ENSP00000505631.1:p.Asp1182His
ENST00000355832.9:c.3703G>C	ENSP00000348089.5:p.Asp1235His
ENST00000465653.1:n.25G>C
ENST00000623073.3:c.*1999G>C	ENSP00000485650.1:n.*1999G>C
ENST00000623115.3:c.1813G>C	ENSP00000485321.1:p.Asp605His
ENST00000624341.3:c.1535G>C
NM_000124.3:c.3703G>C	NP_000115.1:p.Asp1235His
XR_945953.1:n.243-1308C>G
NM_001346440.1:c.3703G>C	NP_001333369.1:p.Asp1235His
NM_000124.4:c.3703G>C MANE Select	NP_000115.1:p.Asp1235His
NM_001346440.2:c.3703G>C	NP_001333369.1:p.Asp1235His