Canonical Allele Identifier: CA5679391

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104070524G>T , CM000672.2:g.104070524G>T	GRCh38
NC_000010.10:g.105830282G>T , CM000672.1:g.105830282G>T	GRCh37
NC_000010.9:g.105820272G>T	NCBI36
NG_007069.1:g.20357C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000494.4:c.509C>A MANE Select	NP_000485.3:p.Ser170Ter
ENST00000648076.2:c.509C>A MANE Select	ENSP00000497653.1:p.Ser170Ter
NM_000494.3:c.509C>A	NP_000485.3:p.Ser170Ter
ENST00000353479.9:c.509C>A	ENSP00000340937.5:p.Ser170Ter
ENST00000369733.7:c.509C>A	ENSP00000358748.3:p.Ser170Ter
ENST00000369733.8:c.509C>A	ENSP00000358748.3:p.Ser170Ter
ENST00000393211.3:c.509C>A	ENSP00000376905.3:p.Ser170Ter
ENST00000483876.1:n.559C>A
ENST00000649118.1:n.624C>A
ENST00000650263.1:c.461C>A	ENSP00000497850.1:p.Ser154Ter