Canonical Allele Identifier: CA2574692556
Gene: COL17A1 HGNC NCBI

Linked Data

gnomAD v4: 10-104053192-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104053192C>A , CM000672.2:g.104053192C>A GRCh38
NC_000010.10:g.105812950C>A , CM000672.1:g.105812950C>A GRCh37
NC_000010.9:g.105802940C>A NCBI36
NG_007069.1:g.37689G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.1835-57G>T ENSP00000358748.3:n.1835-57G>T
ENST00000648076.2:c.1835-57G>T MANE Select ENSP00000497653.1:n.1835-57G>T
ENST00000650263.1:c.1787-57G>T ENSP00000497850.1:n.1787-57G>T
ENST00000353479.9:c.1835-57G>T ENSP00000340937.5:n.1835-57G>T
ENST00000369733.7:c.1835-57G>T ENSP00000358748.3:n.1835-57G>T
NM_000494.3:c.1835-57G>T NP_000485.3:n.1835-57G>T
NM_000494.4:c.1835-57G>T MANE Select NP_000485.3:n.1835-57G>T
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