Canonical Allele Identifier: CA375450659
Gene: COL5A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.137623373A>G (hg19) chr9:g.134731527A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134731527A>G , CM000671.2:g.134731527A>G GRCh38
NC_000009.11:g.137623373A>G , CM000671.1:g.137623373A>G GRCh37
NC_000009.10:g.136763194A>G NCBI36
NG_008030.1:g.94722A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.1196A>G ENSP00000360885.4:p.Asp399Gly
ENST00000371817.8:c.1196A>G MANE Select ENSP00000360882.3:p.Asp399Gly
ENST00000371817.7:c.1196A>G ENSP00000360882.3:p.Asp399Gly
ENST00000618395.4:c.1196A>G ENSP00000481360.1:p.Asp399Gly
NM_000093.4:c.1196A>G NP_000084.3:p.Asp399Gly
NM_001278074.1:c.1196A>G NP_001265003.1:p.Asp399Gly
XR_929712.1:n.1598A>G
XR_929713.1:n.1598A>G
XM_017014266.2:c.1196A>G XP_016869755.1:p.Asp399Gly
XR_001746183.1:n.1594A>G
NM_000093.5:c.1196A>G MANE Select NP_000084.3:p.Asp399Gly
Search 100 bp 5'
Search 100 bp 3'