Canonical Allele Identifier: CA1883314331
Gene: COL5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134700037C= , CM000671.2:g.134700037C= GRCh38
NC_000009.11:g.137591883C= , CM000671.1:g.137591883C= GRCh37
NC_000009.10:g.136731704C= NCBI36
NG_008030.1:g.63232C=

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.406C= ENSP00000360885.4:p.Pro136=
ENST00000371817.8:c.406C= MANE Select ENSP00000360882.3:p.Pro136=
ENST00000371817.7:c.406C= ENSP00000360882.3:p.Pro136=
ENST00000464187.1:n.828C=
ENST00000618395.4:c.406C= ENSP00000481360.1:p.Pro136=
NM_000093.4:c.406C= NP_000084.3:p.Pro136=
NM_001278074.1:c.406C= NP_001265003.1:p.Pro136=
XR_929712.1:n.808C=
XR_929713.1:n.808C=
XM_017014266.2:c.406C= XP_016869755.1:p.Pro136=
XR_001746183.1:n.804C=
NM_000093.5:c.406C= MANE Select NP_000084.3:p.Pro136=