Canonical Allele Identifier: CA2579507253
Gene: COL5A1 HGNC NCBI

Linked Data

gnomAD v4: 9-134818559-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134818559C>A , CM000671.2:g.134818559C>A GRCh38
NC_000009.11:g.137710405C>A , CM000671.1:g.137710405C>A GRCh37
NC_000009.10:g.136850226C>A NCBI36
NG_008030.1:g.181754C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.4231-97C>A ENSP00000360885.4:n.4231-97C>A
ENST00000371817.8:c.4231-97C>A MANE Select ENSP00000360882.3:n.4231-97C>A
ENST00000371817.7:c.4231-97C>A ENSP00000360882.3:n.4231-97C>A
ENST00000618395.4:c.4231-97C>A ENSP00000481360.1:n.4231-97C>A
NM_000093.4:c.4231-97C>A NP_000084.3:n.4231-97C>A
NM_001278074.1:c.4231-97C>A NP_001265003.1:n.4231-97C>A
XR_929712.1:n.4633-97C>A
XR_929713.1:n.4633-97C>A
XM_017014266.2:c.4231-97C>A XP_016869755.1:n.4231-97C>A
XR_001746183.1:n.4629-97C>A
NM_000093.5:c.4231-97C>A MANE Select NP_000084.3:n.4231-97C>A
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