Canonical Allele Identifier: CA375442693

Gene: COL5A1

Linked Data

• MyVariant Identifiers: chr9:g.137591821T>A (hg19) ; chr9:g.134699975T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134699975T>A , CM000671.2:g.134699975T>A	GRCh38
NC_000009.11:g.137591821T>A , CM000671.1:g.137591821T>A	GRCh37
NC_000009.10:g.136731642T>A	NCBI36
NG_008030.1:g.63170T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.344T>A	ENSP00000360885.4:p.Phe115Tyr
ENST00000371817.8:c.344T>A MANE Select	ENSP00000360882.3:p.Phe115Tyr
ENST00000371817.7:c.344T>A	ENSP00000360882.3:p.Phe115Tyr
ENST00000464187.1:n.766T>A
ENST00000618395.4:c.344T>A	ENSP00000481360.1:p.Phe115Tyr
NM_000093.4:c.344T>A	NP_000084.3:p.Phe115Tyr
NM_001278074.1:c.344T>A	NP_001265003.1:p.Phe115Tyr
XR_929712.1:n.746T>A
XR_929713.1:n.746T>A
XM_017014266.2:c.344T>A	XP_016869755.1:p.Phe115Tyr
XR_001746183.1:n.742T>A
NM_000093.5:c.344T>A MANE Select	NP_000084.3:p.Phe115Tyr