Canonical Allele Identifier: CA376718371

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50680431A>C (hg19) ; chr10:g.49472385A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472385A>C , CM000672.2:g.49472385A>C	GRCh38
NC_000010.10:g.50680431A>C , CM000672.1:g.50680431A>C	GRCh37
NC_000010.9:g.50350437A>C	NCBI36
NG_009442.1:g.71717T>G , LRG_465:g.71717T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2915T>G MANE Select	ENSP00000348089.5:p.Ile972Ser
ENST00000681632.1:n.4318T>G
ENST00000681659.1:c.2756T>G	ENSP00000505631.1:p.Ile919Ser
ENST00000355832.9:c.2915T>G	ENSP00000348089.5:p.Ile972Ser
ENST00000623073.3:c.*1211T>G	ENSP00000485650.1:n.*1211T>G
ENST00000623115.3:c.1025T>G	ENSP00000485321.1:p.Ile342Ser
ENST00000624341.3:c.747T>G
NM_000124.3:c.2915T>G	NP_000115.1:p.Ile972Ser
XR_945953.1:n.690-318A>C
NM_001346440.1:c.2915T>G	NP_001333369.1:p.Ile972Ser
NM_000124.4:c.2915T>G MANE Select	NP_000115.1:p.Ile972Ser
NM_001346440.2:c.2915T>G	NP_001333369.1:p.Ile972Ser