Canonical Allele Identifier: CA2574660978

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104037828C>T , CM000672.2:g.104037828C>T	GRCh38
NC_000010.10:g.105797586C>T , CM000672.1:g.105797586C>T	GRCh37
NC_000010.9:g.105787576C>T	NCBI36
NG_007069.1:g.53053G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.2936-55G>A	ENSP00000358748.3:n.2936-55G>A
ENST00000648076.2:c.3071-55G>A MANE Select	ENSP00000497653.1:n.3071-55G>A
ENST00000353479.9:c.3071-55G>A	ENSP00000340937.5:n.3071-55G>A
ENST00000369733.7:c.2936-55G>A	ENSP00000358748.3:n.2936-55G>A
NM_000494.3:c.3071-55G>A	NP_000485.3:n.3071-55G>A
NM_000494.4:c.3071-55G>A MANE Select	NP_000485.3:n.3071-55G>A