Canonical Allele Identifier: CA467667549
Gene: COL5A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.137727038G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134835192G>C , CM000671.2:g.134835192G>C GRCh38
NC_000009.11:g.137727038G>C , CM000671.1:g.137727038G>C GRCh37
NC_000009.10:g.136866859G>C NCBI36
NG_008030.1:g.198387G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5358G>C ENSP00000360885.4:p.Val1786=
ENST00000371817.8:c.5358G>C MANE Select ENSP00000360882.3:p.Val1786=
ENST00000371817.7:c.5358G>C ENSP00000360882.3:p.Val1786=
ENST00000371820.3:c.616G>C
ENST00000618395.4:c.5358G>C ENSP00000481360.1:p.Val1786=
NM_000093.4:c.5358G>C NP_000084.3:p.Val1786=
NM_001278074.1:c.5358G>C NP_001265003.1:p.Val1786=
NR_103451.2:n.71-14983C>G
NM_000093.5:c.5358G>C MANE Select NP_000084.3:p.Val1786=