Canonical Allele Identifier: CA290330

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134700009G>T , CM000671.2:g.134700009G>T	GRCh38
NC_000009.11:g.137591855G>T , CM000671.1:g.137591855G>T	GRCh37
NC_000009.10:g.136731676G>T	NCBI36
NG_008030.1:g.63204G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000093.5:c.378G>T MANE Select	NP_000084.3:p.Gln126His
ENST00000371817.8:c.378G>T MANE Select	ENSP00000360882.3:p.Gln126His
NM_000093.4:c.378G>T	NP_000084.3:p.Gln126His
NM_001278074.1:c.378G>T	NP_001265003.1:p.Gln126His
ENST00000371817.7:c.378G>T	ENSP00000360882.3:p.Gln126His
ENST00000371820.4:c.378G>T	ENSP00000360885.4:p.Gln126His
ENST00000464187.1:n.800G>T
ENST00000618395.4:c.378G>T	ENSP00000481360.1:p.Gln126His
XM_017014266.2:c.378G>T	XP_016869755.1:p.Gln126His
XR_001746183.1:n.776G>T
XR_929712.1:n.780G>T
XR_929713.1:n.780G>T