Canonical Allele Identifier: CA375451121
Gene: COL5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134731619A>C , CM000671.2:g.134731619A>C GRCh38
NC_000009.11:g.137623465A>C , CM000671.1:g.137623465A>C GRCh37
NC_000009.10:g.136763286A>C NCBI36
NG_008030.1:g.94814A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.1288A>C ENSP00000360885.4:p.Ile430Leu
ENST00000371817.8:c.1288A>C MANE Select ENSP00000360882.3:p.Ile430Leu
ENST00000371817.7:c.1288A>C ENSP00000360882.3:p.Ile430Leu
ENST00000469093.1:n.27A>C
ENST00000618395.4:c.1288A>C ENSP00000481360.1:p.Ile430Leu
NM_000093.4:c.1288A>C NP_000084.3:p.Ile430Leu
NM_001278074.1:c.1288A>C NP_001265003.1:p.Ile430Leu
XR_929712.1:n.1690A>C
XR_929713.1:n.1690A>C
XM_017014266.2:c.1288A>C XP_016869755.1:p.Ile430Leu
XR_001746183.1:n.1686A>C
NM_000093.5:c.1288A>C MANE Select NP_000084.3:p.Ile430Leu