Canonical Allele Identifier: CA471341870
Gene: COL17A1 HGNC NCBI

Linked Data

gnomAD v4: 10-104034625-G-A
MyVariant Identifiers: chr10:g.105794383G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034625G>A , CM000672.2:g.104034625G>A GRCh38
NC_000010.10:g.105794383G>A , CM000672.1:g.105794383G>A GRCh37
NC_000010.9:g.105784373G>A NCBI36
NG_007069.1:g.56256C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3516C>T ENSP00000358748.3:p.Leu1172=
ENST00000648076.2:c.3762C>T MANE Select ENSP00000497653.1:p.Leu1254=
ENST00000353479.9:c.3762C>T ENSP00000340937.5:p.Leu1254=
ENST00000369733.7:c.3516C>T ENSP00000358748.3:p.Leu1172=
NM_000494.3:c.3762C>T NP_000485.3:p.Leu1254=
NM_000494.4:c.3762C>T MANE Select NP_000485.3:p.Leu1254=
Search 100 bp 5'
Search 100 bp 3'