Canonical Allele Identifier: CA1883306123
Gene: COL5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134690900C= , CM000671.2:g.134690900C= GRCh38
NC_000009.11:g.137582746C= , CM000671.1:g.137582746C= GRCh37
NC_000009.10:g.136722567C= NCBI36
NG_008030.1:g.54095C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.110-12C= ENSP00000360885.4:n.110-12C=
ENST00000371817.8:c.110-12C= MANE Select ENSP00000360882.3:n.110-12C=
ENST00000371817.7:c.110-12C= ENSP00000360882.3:n.110-12C=
ENST00000464187.1:n.296-12C=
ENST00000618395.4:c.110-12C= ENSP00000481360.1:n.110-12C=
NM_000093.4:c.110-12C= NP_000084.3:n.110-12C=
NM_001278074.1:c.110-12C= NP_001265003.1:n.110-12C=
XR_929712.1:n.512-12C=
XR_929713.1:n.512-12C=
XM_017014266.2:c.110-12C= XP_016869755.1:n.110-12C=
XR_001746183.1:n.508-12C=
NM_000093.5:c.110-12C= MANE Select NP_000084.3:n.110-12C=