Canonical Allele Identifier: CA375462165

Gene: COL5A1

Linked Data

• dbSNP Id: rs1293687046
• gnomAD v2: 9-137734141-A-G
• gnomAD v4: 9-134842295-A-G
• MyVariant Identifiers: chr9:g.137734141A>G (hg19) ; chr9:g.134842295A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134842295A>G , CM000671.2:g.134842295A>G	GRCh38
NC_000009.11:g.137734141A>G , CM000671.1:g.137734141A>G	GRCh37
NC_000009.10:g.136873962A>G	NCBI36
NG_008030.1:g.205490A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5509A>G	ENSP00000360885.4:p.Met1837Val
ENST00000371817.8:c.5509A>G MANE Select	ENSP00000360882.3:p.Met1837Val
ENST00000371817.7:c.5509A>G	ENSP00000360882.3:p.Met1837Val
ENST00000618395.4:c.5509A>G	ENSP00000481360.1:p.Met1837Val
NM_000093.4:c.5509A>G	NP_000084.3:p.Met1837Val
NM_001278074.1:c.5509A>G	NP_001265003.1:p.Met1837Val
NR_103451.2:n.71-22086T>C
NM_000093.5:c.5509A>G MANE Select	NP_000084.3:p.Met1837Val