Canonical Allele Identifier: CA375460931
Gene: COL5A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.137727017C>A (hg19) chr9:g.134835171C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134835171C>A , CM000671.2:g.134835171C>A GRCh38
NC_000009.11:g.137727017C>A , CM000671.1:g.137727017C>A GRCh37
NC_000009.10:g.136866838C>A NCBI36
NG_008030.1:g.198366C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5337C>A ENSP00000360885.4:p.Asn1779Lys
ENST00000371817.8:c.5337C>A MANE Select ENSP00000360882.3:p.Asn1779Lys
ENST00000371817.7:c.5337C>A ENSP00000360882.3:p.Asn1779Lys
ENST00000371820.3:c.595C>A
ENST00000618395.4:c.5337C>A ENSP00000481360.1:p.Asn1779Lys
NM_000093.4:c.5337C>A NP_000084.3:p.Asn1779Lys
NM_001278074.1:c.5337C>A NP_001265003.1:p.Asn1779Lys
NR_103451.2:n.71-14962G>T
NM_000093.5:c.5337C>A MANE Select NP_000084.3:p.Asn1779Lys
Search 100 bp 5'
Search 100 bp 3'