Canonical Allele Identifier: CA659204132
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs1212940054
gnomAD v3: 10-104071965-C-T
gnomAD v4: 10-104071965-C-T
MyVariant Identifiers: chr10:g.105831723C>T (hg19) chr10:g.104071965C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104071965C>T , CM000672.2:g.104071965C>T GRCh38
NC_000010.10:g.105831723C>T , CM000672.1:g.105831723C>T GRCh37
NC_000010.9:g.105821713C>T NCBI36
NG_007069.1:g.18916G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.463+67G>A ENSP00000358748.3:n.463+67G>A
ENST00000648076.2:c.463+67G>A MANE Select ENSP00000497653.1:n.463+67G>A
ENST00000649118.1:n.578+67G>A
ENST00000650263.1:c.415+67G>A ENSP00000497850.1:n.415+67G>A
ENST00000353479.9:c.463+67G>A ENSP00000340937.5:n.463+67G>A
ENST00000369733.7:c.463+67G>A ENSP00000358748.3:n.463+67G>A
ENST00000393211.3:c.463+67G>A ENSP00000376905.3:n.463+67G>A
ENST00000483876.1:n.513+67G>A
NM_000494.3:c.463+67G>A NP_000485.3:n.463+67G>A
NM_000494.4:c.463+67G>A MANE Select NP_000485.3:n.463+67G>A
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