Canonical Allele Identifier: CA1883347672
Community Standard Title: NM_000093.5(COL5A1):c.1663-1G=
Gene: COL5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134752588G= , CM000671.2:g.134752588G= GRCh38
NC_000009.11:g.137644434G= , CM000671.1:g.137644434G= GRCh37
NC_000009.10:g.136784255G= NCBI36
NG_008030.1:g.115783G=

Transcript Alleles

HGVS Amino-acid Change
NM_000093.5:c.1663-1G= MANE Select NP_000084.3:n.1663-1G=
ENST00000371817.8:c.1663-1G= MANE Select ENSP00000360882.3:n.1663-1G=
NM_000093.4:c.1663-1G= NP_000084.3:n.1663-1G=
NM_001278074.1:c.1663-1G= NP_001265003.1:n.1663-1G=
ENST00000371817.7:c.1663-1G= ENSP00000360882.3:n.1663-1G=
ENST00000371820.4:c.1663-1G= ENSP00000360885.4:n.1663-1G=
ENST00000618395.4:c.1663-1G= ENSP00000481360.1:n.1663-1G=
XM_017014266.2:c.1663-1G= XP_016869755.1:n.1663-1G=
XR_001746183.1:n.2061-1G=
XR_929712.1:n.2065-1G=
XR_929713.1:n.2065-1G=