Canonical Allele Identifier: CA375457991

Gene: COL5A1

Linked Data

• MyVariant Identifiers: chr9:g.137713961G>C (hg19) ; chr9:g.134822115G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134822115G>C , CM000671.2:g.134822115G>C	GRCh38
NC_000009.11:g.137713961G>C , CM000671.1:g.137713961G>C	GRCh37
NC_000009.10:g.136853782G>C	NCBI36
NG_008030.1:g.185310G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.4573G>C	ENSP00000360885.4:p.Gly1525Arg
ENST00000371817.8:c.4573G>C MANE Select	ENSP00000360882.3:p.Gly1525Arg
ENST00000371817.7:c.4573G>C	ENSP00000360882.3:p.Gly1525Arg
ENST00000618395.4:c.4573G>C	ENSP00000481360.1:p.Gly1525Arg
NM_000093.4:c.4573G>C	NP_000084.3:p.Gly1525Arg
NM_001278074.1:c.4573G>C	NP_001265003.1:p.Gly1525Arg
NR_103451.2:n.71-1906C>G
XR_929712.1:n.4975G>C
XR_929713.1:n.4975G>C
XM_017014266.2:c.4573G>C	XP_016869755.1:p.Gly1525Arg
XR_001746183.1:n.4971G>C
NM_000093.5:c.4573G>C MANE Select	NP_000084.3:p.Gly1525Arg