Canonical Allele Identifier: CA378077284

Gene: COL17A1

Linked Data

• gnomAD v4: 10-104064485-G-T
• MyVariant Identifiers: chr10:g.105824243G>T (hg19) ; chr10:g.104064485G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104064485G>T , CM000672.2:g.104064485G>T	GRCh38
NC_000010.10:g.105824243G>T , CM000672.1:g.105824243G>T	GRCh37
NC_000010.9:g.105814233G>T	NCBI36
NG_007069.1:g.26396C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.719C>A	ENSP00000358748.3:p.Thr240Asn
ENST00000648076.2:c.719C>A MANE Select	ENSP00000497653.1:p.Thr240Asn
ENST00000649118.1:n.834C>A
ENST00000650263.1:c.671C>A	ENSP00000497850.1:p.Thr224Asn
ENST00000353479.9:c.719C>A	ENSP00000340937.5:p.Thr240Asn
ENST00000369733.7:c.719C>A	ENSP00000358748.3:p.Thr240Asn
ENST00000393211.3:c.719C>A	ENSP00000376905.3:p.Thr240Asn
ENST00000488320.1:n.64C>A
NM_000494.3:c.719C>A	NP_000485.3:p.Thr240Asn
NM_000494.4:c.719C>A MANE Select	NP_000485.3:p.Thr240Asn