Canonical Allele Identifier: CA1618836520
Gene: MDC1 HGNC NCBI
MDC1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30711851T>G , CM000668.2:g.30711851T>G GRCh38
NC_000006.11:g.30679628T>G , CM000668.1:g.30679628T>G GRCh37
NC_000006.10:g.30787607T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376406.8:c.2068+23A>C (MDC1) MANE Select ENSP00000365588.3:n.2068+23A>C
ENST00000376406.7:c.2068+23A>C (MDC1) ENSP00000365588.3:n.2068+23A>C
ENST00000417033.1:c.41+23A>C (MDC1)
ENST00000494654.1:n.58+23A>C (MDC1)
NM_014641.2:c.2068+23A>C (MDC1) NP_055456.2:n.2068+23A>C
NR_133647.1:n.128-461T>G (MDC1-AS1)
XM_005249492.2:c.2131+23A>C (MDC1) XP_005249549.1:n.2131+23A>C
XM_005249493.2:c.2131+23A>C (MDC1) XP_005249550.1:n.2131+23A>C
XM_005249494.3:c.2068+23A>C (MDC1) XP_005249551.1:n.2068+23A>C
XM_005249497.2:c.2131+23A>C (MDC1) XP_005249554.1:n.2131+23A>C
XM_005249498.2:c.2131+23A>C (MDC1) XP_005249555.1:n.2131+23A>C
XM_011515001.1:c.2068+23A>C (MDC1) XP_011513303.1:n.2068+23A>C
XM_011515002.1:c.2068+23A>C (MDC1) XP_011513304.1:n.2068+23A>C
XM_011515003.1:c.2068+23A>C (MDC1) XP_011513305.1:n.2068+23A>C
XM_011515004.1:c.1684+23A>C (MDC1) XP_011513306.1:n.1684+23A>C
XM_005249493.4:c.2131+23A>C (MDC1) XP_005249550.1:n.2131+23A>C
XM_005249494.5:c.2068+23A>C (MDC1) XP_005249551.1:n.2068+23A>C
XM_005249497.4:c.2131+23A>C (MDC1) XP_005249554.1:n.2131+23A>C
XM_005249498.4:c.2131+23A>C (MDC1) XP_005249555.1:n.2131+23A>C
XM_011515001.3:c.2068+23A>C (MDC1) XP_011513303.1:n.2068+23A>C
XM_011515003.3:c.2068+23A>C (MDC1) XP_011513305.1:n.2068+23A>C
XM_011515004.3:c.1684+23A>C (MDC1) XP_011513306.1:n.1684+23A>C
XM_017011519.2:c.2068+23A>C (MDC1) XP_016867008.1:n.2068+23A>C
XM_017011520.2:c.2068+23A>C (MDC1) XP_016867009.1:n.2068+23A>C
XM_017011521.2:c.2068+23A>C (MDC1) XP_016867010.1:n.2068+23A>C
XM_017011522.2:c.2131+23A>C (MDC1) XP_016867011.1:n.2131+23A>C
NM_014641.3:c.2068+23A>C (MDC1) MANE Select NP_055456.2:n.2068+23A>C