Canonical Allele Identifier: CA5320692
Gene: COL5A1 HGNC NCBI

Linked Data

dbSNP Id: rs746104317

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134835173C>T , CM000671.2:g.134835173C>T GRCh38
NC_000009.11:g.137727019C>T , CM000671.1:g.137727019C>T GRCh37
NC_000009.10:g.136866840C>T NCBI36
NG_008030.1:g.198368C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5339C>T ENSP00000360885.4:p.Pro1780Leu
ENST00000371817.8:c.5339C>T MANE Select ENSP00000360882.3:p.Pro1780Leu
ENST00000371817.7:c.5339C>T ENSP00000360882.3:p.Pro1780Leu
ENST00000371820.3:c.597C>T
ENST00000618395.4:c.5339C>T ENSP00000481360.1:p.Pro1780Leu
NM_000093.4:c.5339C>T NP_000084.3:p.Pro1780Leu
NM_001278074.1:c.5339C>T NP_001265003.1:p.Pro1780Leu
NR_103451.2:n.71-14964G>A
NM_000093.5:c.5339C>T MANE Select NP_000084.3:p.Pro1780Leu