Canonical Allele Identifier: CA1883345860
Gene: COL5A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134750890C= , CM000671.2:g.134750890C= GRCh38
NC_000009.11:g.137642736C= , CM000671.1:g.137642736C= GRCh37
NC_000009.10:g.136782557C= NCBI36
NG_008030.1:g.114085C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.1662+8C= ENSP00000360885.4:n.1662+8C=
ENST00000371817.8:c.1662+8C= MANE Select ENSP00000360882.3:n.1662+8C=
ENST00000371817.7:c.1662+8C= ENSP00000360882.3:n.1662+8C=
ENST00000618395.4:c.1662+8C= ENSP00000481360.1:n.1662+8C=
NM_000093.4:c.1662+8C= NP_000084.3:n.1662+8C=
NM_001278074.1:c.1662+8C= NP_001265003.1:n.1662+8C=
XR_929712.1:n.2064+8C=
XR_929713.1:n.2064+8C=
XM_017014266.2:c.1662+8C= XP_016869755.1:n.1662+8C=
XR_001746183.1:n.2060+8C=
NM_000093.5:c.1662+8C= MANE Select NP_000084.3:n.1662+8C=
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