Canonical Allele Identifier: CA375461989
Gene: COL5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134842244T>C , CM000671.2:g.134842244T>C GRCh38
NC_000009.11:g.137734090T>C , CM000671.1:g.137734090T>C GRCh37
NC_000009.10:g.136873911T>C NCBI36
NG_008030.1:g.205439T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5458T>C ENSP00000360885.4:p.Phe1820Leu
ENST00000371817.8:c.5458T>C MANE Select ENSP00000360882.3:p.Phe1820Leu
ENST00000371817.7:c.5458T>C ENSP00000360882.3:p.Phe1820Leu
ENST00000618395.4:c.5458T>C ENSP00000481360.1:p.Phe1820Leu
NM_000093.4:c.5458T>C NP_000084.3:p.Phe1820Leu
NM_001278074.1:c.5458T>C NP_001265003.1:p.Phe1820Leu
NR_103451.2:n.71-22035A>G
NM_000093.5:c.5458T>C MANE Select NP_000084.3:p.Phe1820Leu