Canonical Allele Identifier: CA1883373044
Gene: COL5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134822112T= , CM000671.2:g.134822112T= GRCh38
NC_000009.11:g.137713958T= , CM000671.1:g.137713958T= GRCh37
NC_000009.10:g.136853779T= NCBI36
NG_008030.1:g.185307T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.4570T= ENSP00000360885.4:p.Ser1524=
ENST00000371817.8:c.4570T= MANE Select ENSP00000360882.3:p.Ser1524=
ENST00000371817.7:c.4570T= ENSP00000360882.3:p.Ser1524=
ENST00000618395.4:c.4570T= ENSP00000481360.1:p.Ser1524=
NM_000093.4:c.4570T= NP_000084.3:p.Ser1524=
NM_001278074.1:c.4570T= NP_001265003.1:p.Ser1524=
NR_103451.2:n.71-1903A=
XR_929712.1:n.4972T=
XR_929713.1:n.4972T=
XM_017014266.2:c.4570T= XP_016869755.1:p.Ser1524=
XR_001746183.1:n.4968T=
NM_000093.5:c.4570T= MANE Select NP_000084.3:p.Ser1524=