Canonical Allele Identifier: CA376708159

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50668487C>T (hg19) ; chr10:g.49460441C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460441C>T , CM000672.2:g.49460441C>T	GRCh38
NC_000010.10:g.50668487C>T , CM000672.1:g.50668487C>T	GRCh37
NC_000010.9:g.50338493C>T	NCBI36
NG_009442.1:g.83661G>A , LRG_465:g.83661G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3994G>A MANE Select	ENSP00000348089.5:p.Gly1332Ser
ENST00000679552.1:n.1065G>A
ENST00000679871.1:n.1140G>A
ENST00000679974.1:n.1043G>A
ENST00000681632.1:n.5397G>A
ENST00000681659.1:c.3835G>A	ENSP00000505631.1:p.Gly1279Ser
ENST00000355832.9:c.3994G>A	ENSP00000348089.5:p.Gly1332Ser
ENST00000465653.1:n.316G>A
ENST00000623073.3:c.*2290G>A	ENSP00000485650.1:n.*2290G>A
ENST00000623115.3:c.2104G>A	ENSP00000485321.1:p.Gly702Ser
ENST00000624341.3:c.1826G>A
NM_000124.3:c.3994G>A	NP_000115.1:p.Gly1332Ser
XR_945953.1:n.243-11124C>T
NM_001346440.1:c.3994G>A	NP_001333369.1:p.Gly1332Ser
NM_000124.4:c.3994G>A MANE Select	NP_000115.1:p.Gly1332Ser
NM_001346440.2:c.3994G>A	NP_001333369.1:p.Gly1332Ser