Canonical Allele Identifier: CA414132874

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938608A>C (hg19) ; chrX:g.108695378A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695378A>C , CM000685.2:g.108695378A>C	GRCh38
NC_000023.10:g.107938608A>C , CM000685.1:g.107938608A>C	GRCh37
NC_000023.9:g.107825264A>C	NCBI36
NG_011977.1:g.260455A>C
NG_011977.2:g.260455A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4933A>C MANE Select	ENSP00000331902.7:p.Asn1645His
ENST00000361603.7:c.4915A>C	ENSP00000354505.2:p.Asn1639His
ENST00000510690.2:n.1427A>C
ENST00000644079.1:n.1764A>C
ENST00000328300.10:c.4933A>C	ENSP00000331902.6:p.Asn1645His
ENST00000361603.6:c.4915A>C	ENSP00000354505.2:p.Asn1639His
ENST00000504541.1:c.219+457A>C	ENSP00000424845.1:n.219+457A>C
ENST00000515658.1:c.325-919A>C
NM_000495.4:c.4915A>C	NP_000486.1:p.Asn1639His
NM_033380.2:c.4933A>C	NP_203699.1:p.Asn1645His
XM_005262070.2:c.4924A>C	XP_005262127.1:p.Asn1642His
XM_006724616.2:c.4933A>C	XP_006724679.1:p.Asn1645His
XM_011530849.1:c.4609A>C	XP_011529151.1:p.Asn1537His
XM_011530851.1:c.2506A>C	XP_011529153.1:p.Asn836His
XM_011530849.2:c.4948A>C	XP_011529151.2:p.Asn1650His
XM_017029259.2:c.4939A>C	XP_016884748.1:p.Asn1647His
XM_017029260.1:c.4930A>C	XP_016884749.1:p.Asn1644His
XM_017029263.2:c.3268A>C	XP_016884752.1:p.Asn1090His
NM_000495.5:c.4915A>C	NP_000486.1:p.Asn1639His
NM_033380.3:c.4933A>C MANE Select	NP_203699.1:p.Asn1645His