Canonical Allele Identifier: CA2786219099

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843534G>C , CM000671.2:g.134843534G>C	GRCh38
NC_000009.11:g.137735380G>C , CM000671.1:g.137735380G>C	GRCh37
NC_000009.10:g.136875201G>C	NCBI36
NG_008030.1:g.206729G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*1231G>C	ENSP00000360885.4:n.*1231G>C
ENST00000371817.8:c.*1231G>C MANE Select	ENSP00000360882.3:n.*1231G>C
ENST00000371817.7:c.*1231G>C	ENSP00000360882.3:n.*1231G>C
ENST00000618395.4:c.*1231G>C	ENSP00000481360.1:n.*1231G>C
NM_000093.4:c.*1231G>C	NP_000084.3:n.*1231G>C
NM_001278074.1:c.*1231G>C	NP_001265003.1:n.*1231G>C
NR_103451.2:n.71-23325C>G
NM_000093.5:c.*1231G>C MANE Select	NP_000084.3:n.*1231G>C