Canonical Allele Identifier: CA375443667
Gene: COL5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134750596G>C , CM000671.2:g.134750596G>C GRCh38
NC_000009.11:g.137642442G>C , CM000671.1:g.137642442G>C GRCh37
NC_000009.10:g.136782263G>C NCBI36
NG_008030.1:g.113791G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.1549G>C ENSP00000360885.4:p.Gly517Arg
ENST00000371817.8:c.1549G>C MANE Select ENSP00000360882.3:p.Gly517Arg
ENST00000371817.7:c.1549G>C ENSP00000360882.3:p.Gly517Arg
ENST00000618395.4:c.1549G>C ENSP00000481360.1:p.Gly517Arg
NM_000093.4:c.1549G>C NP_000084.3:p.Gly517Arg
NM_001278074.1:c.1549G>C NP_001265003.1:p.Gly517Arg
XR_929712.1:n.1951G>C
XR_929713.1:n.1951G>C
XM_017014266.2:c.1549G>C XP_016869755.1:p.Gly517Arg
XR_001746183.1:n.1947G>C
NM_000093.5:c.1549G>C MANE Select NP_000084.3:p.Gly517Arg