Canonical Allele Identifier: CA591106367
Gene: COL5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1293883733
gnomAD v2: 9-137642561-G-A
gnomAD v3: 9-134750715-G-A
gnomAD v4: 9-134750715-G-A
MyVariant Identifiers: chr9:g.137642561G>A (hg19) chr9:g.134750715G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134750715G>A , CM000671.2:g.134750715G>A GRCh38
NC_000009.11:g.137642561G>A , CM000671.1:g.137642561G>A GRCh37
NC_000009.10:g.136782382G>A NCBI36
NG_008030.1:g.113910G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.1570-75G>A ENSP00000360885.4:n.1570-75G>A
ENST00000371817.8:c.1570-75G>A MANE Select ENSP00000360882.3:n.1570-75G>A
ENST00000371817.7:c.1570-75G>A ENSP00000360882.3:n.1570-75G>A
ENST00000618395.4:c.1570-75G>A ENSP00000481360.1:n.1570-75G>A
NM_000093.4:c.1570-75G>A NP_000084.3:n.1570-75G>A
NM_001278074.1:c.1570-75G>A NP_001265003.1:n.1570-75G>A
XR_929712.1:n.1972-75G>A
XR_929713.1:n.1972-75G>A
XM_017014266.2:c.1570-75G>A XP_016869755.1:n.1570-75G>A
XR_001746183.1:n.1968-75G>A
NM_000093.5:c.1570-75G>A MANE Select NP_000084.3:n.1570-75G>A
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