Canonical Allele Identifier: CA413908734

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107783005G>T (hg19) ; chrX:g.108539775G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108539775G>T , CM000685.2:g.108539775G>T	GRCh38
NC_000023.10:g.107783005G>T , CM000685.1:g.107783005G>T	GRCh37
NC_000023.9:g.107669661G>T	NCBI36
NG_011977.1:g.104852G>T
NG_011977.2:g.104852G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.111G>T MANE Select	ENSP00000331902.7:p.Lys37Asn
ENST00000361603.7:c.111G>T	ENSP00000354505.2:p.Lys37Asn
ENST00000328300.10:c.111G>T	ENSP00000331902.6:p.Lys37Asn
ENST00000361603.6:c.111G>T	ENSP00000354505.2:p.Lys37Asn
ENST00000470339.1:n.295G>T
NM_000495.4:c.111G>T	NP_000486.1:p.Lys37Asn
NM_033380.2:c.111G>T	NP_203699.1:p.Lys37Asn
XM_005262070.2:c.111G>T	XP_005262127.1:p.Lys37Asn
XM_005262072.3:c.111G>T	XP_005262129.1:p.Lys37Asn
XM_006724616.2:c.111G>T	XP_006724679.1:p.Lys37Asn
XM_011530849.1:c.-214G>T	XP_011529151.1:n.-214G>T
XM_011530850.1:c.111G>T	XP_011529152.1:p.Lys37Asn
XM_011530849.2:c.126G>T	XP_011529151.2:p.Lys42Asn
XM_017029259.2:c.126G>T	XP_016884748.1:p.Lys42Asn
XM_017029260.1:c.126G>T	XP_016884749.1:p.Lys42Asn
XM_017029261.1:c.126G>T	XP_016884750.1:p.Lys42Asn
XM_017029262.2:c.126G>T	XP_016884751.1:p.Lys42Asn
NM_000495.5:c.111G>T	NP_000486.1:p.Lys37Asn
NM_033380.3:c.111G>T MANE Select	NP_203699.1:p.Lys37Asn