Canonical Allele Identifier: CA2692444528
Gene: COL5A1 HGNC NCBI

Linked Data

gnomAD v4: 9-134818574-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134818574A>G , CM000671.2:g.134818574A>G GRCh38
NC_000009.11:g.137710420A>G , CM000671.1:g.137710420A>G GRCh37
NC_000009.10:g.136850241A>G NCBI36
NG_008030.1:g.181769A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.4231-82A>G ENSP00000360885.4:n.4231-82A>G
ENST00000371817.8:c.4231-82A>G MANE Select ENSP00000360882.3:n.4231-82A>G
ENST00000371817.7:c.4231-82A>G ENSP00000360882.3:n.4231-82A>G
ENST00000618395.4:c.4231-82A>G ENSP00000481360.1:n.4231-82A>G
NM_000093.4:c.4231-82A>G NP_000084.3:n.4231-82A>G
NM_001278074.1:c.4231-82A>G NP_001265003.1:n.4231-82A>G
XR_929712.1:n.4633-82A>G
XR_929713.1:n.4633-82A>G
XM_017014266.2:c.4231-82A>G XP_016869755.1:n.4231-82A>G
XR_001746183.1:n.4629-82A>G
NM_000093.5:c.4231-82A>G MANE Select NP_000084.3:n.4231-82A>G
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