Canonical Allele Identifier: CA1883396550
Gene: COL5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134842091T= , CM000671.2:g.134842091T= GRCh38
NC_000009.11:g.137733937T= , CM000671.1:g.137733937T= GRCh37
NC_000009.10:g.136873758T= NCBI36
NG_008030.1:g.205286T=

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.5371-66T= ENSP00000360885.4:n.5371-66T=
ENST00000371817.8:c.5371-66T= MANE Select ENSP00000360882.3:n.5371-66T=
ENST00000371817.7:c.5371-66T= ENSP00000360882.3:n.5371-66T=
ENST00000618395.4:c.5371-66T= ENSP00000481360.1:n.5371-66T=
NM_000093.4:c.5371-66T= NP_000084.3:n.5371-66T=
NM_001278074.1:c.5371-66T= NP_001265003.1:n.5371-66T=
NR_103451.2:n.71-21882A=
NM_000093.5:c.5371-66T= MANE Select NP_000084.3:n.5371-66T=