Canonical Allele Identifier: CA10610011
Community Standard Title: NM_005529.7(HSPG2):c.4868+10C>G
Gene: HSPG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21861978G>C , CM000663.2:g.21861978G>C GRCh38
NC_000001.10:g.22188471G>C , CM000663.1:g.22188471G>C GRCh37
NC_000001.9:g.22061058G>C NCBI36
NG_016740.1:g.80280C>G

Transcript Alleles

HGVS Amino-acid Change
NM_005529.7:c.4868+10C>G MANE Select NP_005520.4:n.4868+10C>G
ENST00000374695.8:c.4868+10C>G MANE Select ENSP00000363827.3:n.4868+10C>G
NM_001291860.1:c.4871+10C>G NP_001278789.1:n.4871+10C>G
NM_001291860.2:c.4871+10C>G NP_001278789.1:n.4871+10C>G
NM_005529.6:c.4868+10C>G NP_005520.4:n.4868+10C>G
ENST00000374695.7:c.4868+10C>G ENSP00000363827.3:n.4868+10C>G
XM_006710594.2:c.5414+10C>G XP_006710657.1:n.5414+10C>G
XM_006710595.2:c.5366+10C>G XP_006710658.1:n.5366+10C>G
XM_006710596.2:c.5345+10C>G XP_006710659.1:n.5345+10C>G
XM_006710597.2:c.4868+10C>G XP_006710660.1:n.4868+10C>G
XM_011541317.1:c.5417+10C>G XP_011539619.1:n.5417+10C>G
XM_011541318.1:c.5417+10C>G XP_011539620.1:n.5417+10C>G
XM_011541318.2:c.5417+10C>G XP_011539620.1:n.5417+10C>G
XM_011541319.1:c.5417+10C>G XP_011539621.1:n.5417+10C>G
XM_011541320.1:c.5417+10C>G XP_011539622.1:n.5417+10C>G
XM_011541321.1:c.4922+10C>G XP_011539623.1:n.4922+10C>G
XM_011541322.1:c.5417+10C>G XP_011539624.1:n.5417+10C>G
XM_017001120.1:c.5063+10C>G XP_016856609.1:n.5063+10C>G
XM_017001121.1:c.5012+10C>G XP_016856610.1:n.5012+10C>G
XM_017001122.1:c.5009+10C>G XP_016856611.1:n.5009+10C>G