Canonical Allele Identifier: CA2610797619
Gene: COL17A1 HGNC NCBI

Linked Data

gnomAD v4: 10-104052975-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104052975A>C , CM000672.2:g.104052975A>C GRCh38
NC_000010.10:g.105812733A>C , CM000672.1:g.105812733A>C GRCh37
NC_000010.9:g.105802723A>C NCBI36
NG_007069.1:g.37906T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.1939+56T>G ENSP00000358748.3:n.1939+56T>G
ENST00000648076.2:c.1939+56T>G MANE Select ENSP00000497653.1:n.1939+56T>G
ENST00000353479.9:c.1939+56T>G ENSP00000340937.5:n.1939+56T>G
ENST00000369733.7:c.1939+56T>G ENSP00000358748.3:n.1939+56T>G
NM_000494.3:c.1939+56T>G NP_000485.3:n.1939+56T>G
NM_000494.4:c.1939+56T>G MANE Select NP_000485.3:n.1939+56T>G
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