Canonical Allele Identifier: CA2579507256
Gene: COL5A1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134818576G>A , CM000671.2:g.134818576G>A GRCh38
NC_000009.11:g.137710422G>A , CM000671.1:g.137710422G>A GRCh37
NC_000009.10:g.136850243G>A NCBI36
NG_008030.1:g.181771G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.4231-80G>A ENSP00000360885.4:n.4231-80G>A
ENST00000371817.8:c.4231-80G>A MANE Select ENSP00000360882.3:n.4231-80G>A
ENST00000371817.7:c.4231-80G>A ENSP00000360882.3:n.4231-80G>A
ENST00000618395.4:c.4231-80G>A ENSP00000481360.1:n.4231-80G>A
NM_000093.4:c.4231-80G>A NP_000084.3:n.4231-80G>A
NM_001278074.1:c.4231-80G>A NP_001265003.1:n.4231-80G>A
XR_929712.1:n.4633-80G>A
XR_929713.1:n.4633-80G>A
XM_017014266.2:c.4231-80G>A XP_016869755.1:n.4231-80G>A
XR_001746183.1:n.4629-80G>A
NM_000093.5:c.4231-80G>A MANE Select NP_000084.3:n.4231-80G>A
Search 100 bp 5'
Search 100 bp 3'