Canonical Allele Identifier: CA376752824

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49524301-T-C
• MyVariant Identifiers: chr10:g.50732347T>C (hg19) ; chr10:g.49524301T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524301T>C , CM000672.2:g.49524301T>C	GRCh38
NC_000010.10:g.50732347T>C , CM000672.1:g.50732347T>C	GRCh37
NC_000010.9:g.50402353T>C	NCBI36
NG_009442.1:g.19801A>G , LRG_465:g.19801A>G
NG_033155.1:g.4981A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1129A>G MANE Select	ENSP00000348089.5:p.Thr377Ala
ENST00000447839.7:c.1129A>G MANE Plus Clinical	ENSP00000387966.2:p.Thr377Ala
ENST00000679596.1:c.*758A>G	ENSP00000504862.1:n.*758A>G
ENST00000679811.1:n.1212A>G
ENST00000680107.1:c.652+4116A>G	ENSP00000505909.1:n.652+4116A>G
ENST00000680233.1:n.1222A>G
ENST00000681632.1:n.1207A>G
ENST00000681659.1:c.1129A>G	ENSP00000505631.1:p.Thr377Ala
ENST00000355832.9:c.1129A>G	ENSP00000348089.5:p.Thr377Ala
ENST00000447839.6:c.1129A>G	ENSP00000387966.2:p.Thr377Ala
ENST00000515869.1:c.1129A>G	ENSP00000423550.1:p.Thr377Ala
NM_000124.3:c.1129A>G	NP_000115.1:p.Thr377Ala
NM_001277058.1:c.1129A>G	NP_001263987.1:p.Thr377Ala
NM_001277059.1:c.1129A>G	NP_001263988.1:p.Thr377Ala
NM_001346440.1:c.1129A>G	NP_001333369.1:p.Thr377Ala
NM_000124.4:c.1129A>G MANE Select	NP_000115.1:p.Thr377Ala
NM_001277058.2:c.1129A>G MANE Plus Clinical	NP_001263987.1:p.Thr377Ala
NM_001277059.2:c.1129A>G	NP_001263988.1:p.Thr377Ala
NM_001346440.2:c.1129A>G	NP_001333369.1:p.Thr377Ala