Canonical Allele Identifier: CA1883393036

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835155T= , CM000671.2:g.134835155T=	GRCh38
NC_000009.11:g.137727001T= , CM000671.1:g.137727001T=	GRCh37
NC_000009.10:g.136866822T=	NCBI36
NG_008030.1:g.198350T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5321T=	ENSP00000360885.4:p.Met1774=
ENST00000371817.8:c.5321T= MANE Select	ENSP00000360882.3:p.Met1774=
ENST00000371817.7:c.5321T=	ENSP00000360882.3:p.Met1774=
ENST00000371820.3:c.579T=
ENST00000618395.4:c.5321T=	ENSP00000481360.1:p.Met1774=
NM_000093.4:c.5321T=	NP_000084.3:p.Met1774=
NM_001278074.1:c.5321T=	NP_001265003.1:p.Met1774=
NR_103451.2:n.71-14946A=
NM_000093.5:c.5321T= MANE Select	NP_000084.3:p.Met1774=