Canonical Allele Identifier: CA376708333

Gene: ERCC6

Linked Data

• dbSNP Id: rs1850580314
• gnomAD v4: 10-49461421-A-G
• MyVariant Identifiers: chr10:g.50669467A>G (hg19) ; chr10:g.49461421A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461421A>G , CM000672.2:g.49461421A>G	GRCh38
NC_000010.10:g.50669467A>G , CM000672.1:g.50669467A>G	GRCh37
NC_000010.9:g.50339473A>G	NCBI36
NG_009442.1:g.82681T>C , LRG_465:g.82681T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3914T>C MANE Select	ENSP00000348089.5:p.Leu1305Pro
ENST00000679552.1:n.985T>C
ENST00000679871.1:n.1060T>C
ENST00000679974.1:n.963T>C
ENST00000681632.1:n.5317T>C
ENST00000681659.1:c.3755T>C	ENSP00000505631.1:p.Leu1252Pro
ENST00000355832.9:c.3914T>C	ENSP00000348089.5:p.Leu1305Pro
ENST00000465653.1:n.236T>C
ENST00000623073.3:c.*2210T>C	ENSP00000485650.1:n.*2210T>C
ENST00000623115.3:c.2024T>C	ENSP00000485321.1:p.Leu675Pro
ENST00000624341.3:c.1746T>C
NM_000124.3:c.3914T>C	NP_000115.1:p.Leu1305Pro
XR_945953.1:n.243-10144A>G
NM_001346440.1:c.3914T>C	NP_001333369.1:p.Leu1305Pro
NM_000124.4:c.3914T>C MANE Select	NP_000115.1:p.Leu1305Pro
NM_001346440.2:c.3914T>C	NP_001333369.1:p.Leu1305Pro