Canonical Allele Identifier: CA281063
Gene: COL5A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134814039G>T , CM000671.2:g.134814039G>T GRCh38
NC_000009.11:g.137705885G>T , CM000671.1:g.137705885G>T GRCh37
NC_000009.10:g.136845706G>T NCBI36
NG_008030.1:g.177234G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.3906+3G>T ENSP00000360885.4:n.3906+3G>T
ENST00000371817.8:c.3906+3G>T MANE Select ENSP00000360882.3:n.3906+3G>T
ENST00000371817.7:c.3906+3G>T ENSP00000360882.3:n.3906+3G>T
ENST00000618395.4:c.3906+3G>T ENSP00000481360.1:n.3906+3G>T
NM_000093.4:c.3906+3G>T NP_000084.3:n.3906+3G>T
NM_001278074.1:c.3906+3G>T NP_001265003.1:n.3906+3G>T
XR_929712.1:n.4308+3G>T
XR_929713.1:n.4308+3G>T
XM_017014266.2:c.3906+3G>T XP_016869755.1:n.3906+3G>T
XR_001746183.1:n.4304+3G>T
NM_000093.5:c.3906+3G>T MANE Select NP_000084.3:n.3906+3G>T
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