Canonical Allele Identifier: CA376708243

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50669422A>C (hg19) ; chr10:g.49461376A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461376A>C , CM000672.2:g.49461376A>C	GRCh38
NC_000010.10:g.50669422A>C , CM000672.1:g.50669422A>C	GRCh37
NC_000010.9:g.50339428A>C	NCBI36
NG_009442.1:g.82726T>G , LRG_465:g.82726T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3959T>G MANE Select	ENSP00000348089.5:p.Ile1320Ser
ENST00000679552.1:n.1030T>G
ENST00000679871.1:n.1105T>G
ENST00000679974.1:n.1008T>G
ENST00000681632.1:n.5362T>G
ENST00000681659.1:c.3800T>G	ENSP00000505631.1:p.Ile1267Ser
ENST00000355832.9:c.3959T>G	ENSP00000348089.5:p.Ile1320Ser
ENST00000465653.1:n.281T>G
ENST00000623073.3:c.*2255T>G	ENSP00000485650.1:n.*2255T>G
ENST00000623115.3:c.2069T>G	ENSP00000485321.1:p.Ile690Ser
ENST00000624341.3:c.1791T>G
NM_000124.3:c.3959T>G	NP_000115.1:p.Ile1320Ser
XR_945953.1:n.243-10189A>C
NM_001346440.1:c.3959T>G	NP_001333369.1:p.Ile1320Ser
NM_000124.4:c.3959T>G MANE Select	NP_000115.1:p.Ile1320Ser
NM_001346440.2:c.3959T>G	NP_001333369.1:p.Ile1320Ser