Canonical Allele Identifier: CA2722596866

Gene: COL17A1

Linked Data

• dbSNP Id: rs2134576805

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104037616G>C , CM000672.2:g.104037616G>C	GRCh38
NC_000010.10:g.105797374G>C , CM000672.1:g.105797374G>C	GRCh37
NC_000010.9:g.105787364G>C	NCBI36
NG_007069.1:g.53265C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.3073+20C>G	ENSP00000358748.3:n.3073+20C>G
ENST00000648076.2:c.3208+20C>G MANE Select	ENSP00000497653.1:n.3208+20C>G
ENST00000353479.9:c.3208+20C>G	ENSP00000340937.5:n.3208+20C>G
ENST00000369733.7:c.3073+20C>G	ENSP00000358748.3:n.3073+20C>G
NM_000494.3:c.3208+20C>G	NP_000485.3:n.3208+20C>G
NM_000494.4:c.3208+20C>G MANE Select	NP_000485.3:n.3208+20C>G