Canonical Allele Identifier: CA343119

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134824817G>C , CM000671.2:g.134824817G>C	GRCh38
NC_000009.11:g.137716663G>C , CM000671.1:g.137716663G>C	GRCh37
NC_000009.10:g.136856484G>C	NCBI36
NG_008030.1:g.188012G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000093.5:c.4916G>C MANE Select	NP_000084.3:p.Cys1639Ser
ENST00000371817.8:c.4916G>C MANE Select	ENSP00000360882.3:p.Cys1639Ser
NM_000093.4:c.4916G>C	NP_000084.3:p.Cys1639Ser
NM_001278074.1:c.4916G>C	NP_001265003.1:p.Cys1639Ser
NR_103451.2:n.71-4608C>G
ENST00000371817.7:c.4916G>C	ENSP00000360882.3:p.Cys1639Ser
ENST00000371820.3:c.174G>C
ENST00000371820.4:c.4916G>C	ENSP00000360885.4:p.Cys1639Ser
ENST00000460264.5:n.384G>C
ENST00000465877.1:n.96G>C
ENST00000618395.4:c.4916G>C	ENSP00000481360.1:p.Cys1639Ser
XM_017014266.2:c.4916G>C	XP_016869755.1:p.Cys1639Ser
XR_001746183.1:n.5314G>C
XR_929712.1:n.5318G>C
XR_929713.1:n.5318G>C