Canonical Allele Identifier: CA375450744
Gene: COL5A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.137623389C>G (hg19) chr9:g.134731543C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134731543C>G , CM000671.2:g.134731543C>G GRCh38
NC_000009.11:g.137623389C>G , CM000671.1:g.137623389C>G GRCh37
NC_000009.10:g.136763210C>G NCBI36
NG_008030.1:g.94738C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.1212C>G ENSP00000360885.4:p.Phe404Leu
ENST00000371817.8:c.1212C>G MANE Select ENSP00000360882.3:p.Phe404Leu
ENST00000371817.7:c.1212C>G ENSP00000360882.3:p.Phe404Leu
ENST00000618395.4:c.1212C>G ENSP00000481360.1:p.Phe404Leu
NM_000093.4:c.1212C>G NP_000084.3:p.Phe404Leu
NM_001278074.1:c.1212C>G NP_001265003.1:p.Phe404Leu
XR_929712.1:n.1614C>G
XR_929713.1:n.1614C>G
XM_017014266.2:c.1212C>G XP_016869755.1:p.Phe404Leu
XR_001746183.1:n.1610C>G
NM_000093.5:c.1212C>G MANE Select NP_000084.3:p.Phe404Leu
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