Canonical Allele Identifier: CA375460280

Gene: COL5A1

Linked Data

• MyVariant Identifiers: chr9:g.137726836A>C (hg19) ; chr9:g.134834990A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134834990A>C , CM000671.2:g.134834990A>C	GRCh38
NC_000009.11:g.137726836A>C , CM000671.1:g.137726836A>C	GRCh37
NC_000009.10:g.136866657A>C	NCBI36
NG_008030.1:g.198185A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5156A>C	ENSP00000360885.4:p.Glu1719Ala
ENST00000371817.8:c.5156A>C MANE Select	ENSP00000360882.3:p.Glu1719Ala
ENST00000371817.7:c.5156A>C	ENSP00000360882.3:p.Glu1719Ala
ENST00000371820.3:c.414A>C
ENST00000618395.4:c.5156A>C	ENSP00000481360.1:p.Glu1719Ala
NM_000093.4:c.5156A>C	NP_000084.3:p.Glu1719Ala
NM_001278074.1:c.5156A>C	NP_001265003.1:p.Glu1719Ala
NR_103451.2:n.71-14781T>G
XR_929712.1:n.5840A>C
XR_929713.1:n.5708A>C
NM_000093.5:c.5156A>C MANE Select	NP_000084.3:p.Glu1719Ala