Canonical Allele Identifier: CA5319971

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134811536C>T , CM000671.2:g.134811536C>T	GRCh38
NC_000009.11:g.137703382C>T , CM000671.1:g.137703382C>T	GRCh37
NC_000009.10:g.136843203C>T	NCBI36
NG_008030.1:g.174731C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000093.5:c.3627C>T MANE Select	NP_000084.3:p.Phe1209=
ENST00000371817.8:c.3627C>T MANE Select	ENSP00000360882.3:p.Phe1209=
NM_000093.4:c.3627C>T	NP_000084.3:p.Phe1209=
NM_001278074.1:c.3627C>T	NP_001265003.1:p.Phe1209=
ENST00000371817.7:c.3627C>T	ENSP00000360882.3:p.Phe1209=
ENST00000371820.4:c.3627C>T	ENSP00000360885.4:p.Phe1209=
ENST00000618395.4:c.3627C>T	ENSP00000481360.1:p.Phe1209=
XM_017014266.2:c.3627C>T	XP_016869755.1:p.Phe1209=
XR_001746183.1:n.4025C>T
XR_929712.1:n.4029C>T
XR_929713.1:n.4029C>T