Canonical Allele Identifier: CA375442968

Gene: COL5A1

Linked Data

• MyVariant Identifiers: chr9:g.137591893T>A (hg19) ; chr9:g.134700047T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134700047T>A , CM000671.2:g.134700047T>A	GRCh38
NC_000009.11:g.137591893T>A , CM000671.1:g.137591893T>A	GRCh37
NC_000009.10:g.136731714T>A	NCBI36
NG_008030.1:g.63242T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.416T>A	ENSP00000360885.4:p.Leu139His
ENST00000371817.8:c.416T>A MANE Select	ENSP00000360882.3:p.Leu139His
ENST00000371817.7:c.416T>A	ENSP00000360882.3:p.Leu139His
ENST00000464187.1:n.838T>A
ENST00000618395.4:c.416T>A	ENSP00000481360.1:p.Leu139His
NM_000093.4:c.416T>A	NP_000084.3:p.Leu139His
NM_001278074.1:c.416T>A	NP_001265003.1:p.Leu139His
XR_929712.1:n.818T>A
XR_929713.1:n.818T>A
XM_017014266.2:c.416T>A	XP_016869755.1:p.Leu139His
XR_001746183.1:n.814T>A
NM_000093.5:c.416T>A MANE Select	NP_000084.3:p.Leu139His