Canonical Allele Identifier: CA2610805388

Gene: COL17A1

Linked Data

• gnomAD v4: 10-104064407-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104064407T>G , CM000672.2:g.104064407T>G	GRCh38
NC_000010.10:g.105824165T>G , CM000672.1:g.105824165T>G	GRCh37
NC_000010.9:g.105814155T>G	NCBI36
NG_007069.1:g.26474A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.766+31A>C	ENSP00000358748.3:n.766+31A>C
ENST00000648076.2:c.766+31A>C MANE Select	ENSP00000497653.1:n.766+31A>C
ENST00000649118.1:n.881+31A>C
ENST00000650263.1:c.718+31A>C	ENSP00000497850.1:n.718+31A>C
ENST00000353479.9:c.766+31A>C	ENSP00000340937.5:n.766+31A>C
ENST00000369733.7:c.766+31A>C	ENSP00000358748.3:n.766+31A>C
ENST00000393211.3:c.766+31A>C	ENSP00000376905.3:n.766+31A>C
ENST00000488320.1:n.111+31A>C
NM_000494.3:c.766+31A>C	NP_000485.3:n.766+31A>C
NM_000494.4:c.766+31A>C MANE Select	NP_000485.3:n.766+31A>C