Canonical Allele Identifier: CA467666920

Gene: COL5A1

Linked Data

• dbSNP Id: rs1839799414
• MyVariant Identifiers: chr9:g.137726894C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835048C>T , CM000671.2:g.134835048C>T	GRCh38
NC_000009.11:g.137726894C>T , CM000671.1:g.137726894C>T	GRCh37
NC_000009.10:g.136866715C>T	NCBI36
NG_008030.1:g.198243C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5214C>T	ENSP00000360885.4:p.Ala1738=
ENST00000371817.8:c.5214C>T MANE Select	ENSP00000360882.3:p.Ala1738=
ENST00000371817.7:c.5214C>T	ENSP00000360882.3:p.Ala1738=
ENST00000371820.3:c.472C>T
ENST00000618395.4:c.5214C>T	ENSP00000481360.1:p.Ala1738=
NM_000093.4:c.5214C>T	NP_000084.3:p.Ala1738=
NM_001278074.1:c.5214C>T	NP_001265003.1:p.Ala1738=
NR_103451.2:n.71-14839G>A
XR_929712.1:n.5898C>T
XR_929713.1:n.5766C>T
NM_000093.5:c.5214C>T MANE Select	NP_000084.3:p.Ala1738=