Canonical Allele Identifier: CA158855
Community Standard Title: NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser)
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13920181C>T , CM000678.2:g.13920181C>T GRCh38
NC_000016.9:g.14014038C>T , CM000678.1:g.14014038C>T GRCh37
NC_000016.8:g.13921539C>T NCBI36
NG_011442.1:g.5025C>T , LRG_463:g.5025C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.16C>T MANE Select NP_005227.1:p.Pro6Ser
ENST00000311895.8:c.16C>T MANE Select ENSP00000310520.7:p.Pro6Ser
NM_005236.2:c.16C>T , LRG_463t1:c.16C>T NP_005227.1:p.Pro6Ser
ENST00000311895.7:c.16C>T ENSP00000310520.7:p.Pro6Ser
ENST00000575156.5:c.16C>T ENSP00000459933.1:p.Pro6Ser
ENST00000682552.1:n.4C>T
ENST00000682617.1:c.16C>T ENSP00000507912.1:p.Pro6Ser
ENST00000682826.1:c.16C>T ENSP00000507274.1:p.Pro6Ser
ENST00000682909.1:n.25C>T
ENST00000683277.1:n.3C>T
ENST00000683407.1:n.24C>T
ENST00000683962.1:c.16C>T ENSP00000506854.1:p.Pro6Ser
XM_011522424.1:c.16C>T XP_011520726.1:p.Pro6Ser
XM_011522424.3:c.16C>T XP_011520726.1:p.Pro6Ser
XR_932805.1:n.37C>T
XR_933098.1:n.82+6344G>A
XR_933099.1:n.82+6344G>A
XR_933100.1:n.82+6344G>A