Canonical Allele Identifier: CA2580908445

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134750632A>T , CM000671.2:g.134750632A>T	GRCh38
NC_000009.11:g.137642478A>T , CM000671.1:g.137642478A>T	GRCh37
NC_000009.10:g.136782299A>T	NCBI36
NG_008030.1:g.113827A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1569+16A>T	ENSP00000360885.4:n.1569+16A>T
ENST00000371817.8:c.1569+16A>T MANE Select	ENSP00000360882.3:n.1569+16A>T
ENST00000371817.7:c.1569+16A>T	ENSP00000360882.3:n.1569+16A>T
ENST00000618395.4:c.1569+16A>T	ENSP00000481360.1:n.1569+16A>T
NM_000093.4:c.1569+16A>T	NP_000084.3:n.1569+16A>T
NM_001278074.1:c.1569+16A>T	NP_001265003.1:n.1569+16A>T
XR_929712.1:n.1971+16A>T
XR_929713.1:n.1971+16A>T
XM_017014266.2:c.1569+16A>T	XP_016869755.1:n.1569+16A>T
XR_001746183.1:n.1967+16A>T
NM_000093.5:c.1569+16A>T MANE Select	NP_000084.3:n.1569+16A>T