Canonical Allele Identifier: CA375458714

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134824816T>A , CM000671.2:g.134824816T>A	GRCh38
NC_000009.11:g.137716662T>A , CM000671.1:g.137716662T>A	GRCh37
NC_000009.10:g.136856483T>A	NCBI36
NG_008030.1:g.188011T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000093.5:c.4915T>A MANE Select	NP_000084.3:p.Cys1639Ser
ENST00000371817.8:c.4915T>A MANE Select	ENSP00000360882.3:p.Cys1639Ser
NM_000093.4:c.4915T>A	NP_000084.3:p.Cys1639Ser
NM_001278074.1:c.4915T>A	NP_001265003.1:p.Cys1639Ser
NR_103451.2:n.71-4607A>T
ENST00000371817.7:c.4915T>A	ENSP00000360882.3:p.Cys1639Ser
ENST00000371820.3:c.173T>A
ENST00000371820.4:c.4915T>A	ENSP00000360885.4:p.Cys1639Ser
ENST00000460264.5:n.383T>A
ENST00000465877.1:n.95T>A
ENST00000618395.4:c.4915T>A	ENSP00000481360.1:p.Cys1639Ser
XM_017014266.2:c.4915T>A	XP_016869755.1:p.Cys1639Ser
XR_001746183.1:n.5313T>A
XR_929712.1:n.5317T>A
XR_929713.1:n.5317T>A