Canonical Allele Identifier: CA201114184

Gene: COL5A1

Linked Data

• dbSNP Id: rs929660704
• MyVariant Identifiers: chr9:g.137727304G>C (hg19) ; chr9:g.134835458G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835458G>C , CM000671.2:g.134835458G>C	GRCh38
NC_000009.11:g.137727304G>C , CM000671.1:g.137727304G>C	GRCh37
NC_000009.10:g.136867125G>C	NCBI36
NG_008030.1:g.198653G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5370+254G>C	ENSP00000360885.4:n.5370+254G>C
ENST00000371817.8:c.5370+254G>C MANE Select	ENSP00000360882.3:n.5370+254G>C
ENST00000371817.7:c.5370+254G>C	ENSP00000360882.3:n.5370+254G>C
ENST00000618395.4:c.5370+254G>C	ENSP00000481360.1:n.5370+254G>C
NM_000093.4:c.5370+254G>C	NP_000084.3:n.5370+254G>C
NM_001278074.1:c.5370+254G>C	NP_001265003.1:n.5370+254G>C
NR_103451.2:n.71-15249C>G
NM_000093.5:c.5370+254G>C MANE Select	NP_000084.3:n.5370+254G>C