Canonical Allele Identifier: CA201120710

Gene: COL5A1

Linked Data

• dbSNP Id: rs537894529
• gnomAD v3: 9-134843077-G-C
• gnomAD v4: 9-134843077-G-C
• MyVariant Identifiers: chr9:g.134843077G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843077G>C , CM000671.2:g.134843077G>C	GRCh38
NC_000009.11:g.137734923G>C , CM000671.1:g.137734923G>C	GRCh37
NC_000009.10:g.136874744G>C	NCBI36
NG_008030.1:g.206272G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.*774G>C	ENSP00000360885.4:n.*774G>C
ENST00000371817.8:c.*774G>C MANE Select	ENSP00000360882.3:n.*774G>C
ENST00000371817.7:c.*774G>C	ENSP00000360882.3:n.*774G>C
ENST00000618395.4:c.*774G>C	ENSP00000481360.1:n.*774G>C
NM_000093.4:c.*774G>C	NP_000084.3:n.*774G>C
NM_001278074.1:c.*774G>C	NP_001265003.1:n.*774G>C
NR_103451.2:n.71-22868C>G
NM_000093.5:c.*774G>C MANE Select	NP_000084.3:n.*774G>C