Canonical Allele Identifier: CA414132902

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938620A>C (hg19) ; chrX:g.108695390A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695390A>C , CM000685.2:g.108695390A>C	GRCh38
NC_000023.10:g.107938620A>C , CM000685.1:g.107938620A>C	GRCh37
NC_000023.9:g.107825276A>C	NCBI36
NG_011977.1:g.260467A>C
NG_011977.2:g.260467A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4945A>C MANE Select	ENSP00000331902.7:p.Asn1649His
ENST00000361603.7:c.4927A>C	ENSP00000354505.2:p.Asn1643His
ENST00000510690.2:n.1439A>C
ENST00000644079.1:n.1776A>C
ENST00000328300.10:c.4945A>C	ENSP00000331902.6:p.Asn1649His
ENST00000361603.6:c.4927A>C	ENSP00000354505.2:p.Asn1643His
ENST00000504541.1:c.219+469A>C	ENSP00000424845.1:n.219+469A>C
ENST00000515658.1:c.325-907A>C
NM_000495.4:c.4927A>C	NP_000486.1:p.Asn1643His
NM_033380.2:c.4945A>C	NP_203699.1:p.Asn1649His
XM_005262070.2:c.4936A>C	XP_005262127.1:p.Asn1646His
XM_006724616.2:c.4945A>C	XP_006724679.1:p.Asn1649His
XM_011530849.1:c.4621A>C	XP_011529151.1:p.Asn1541His
XM_011530851.1:c.2518A>C	XP_011529153.1:p.Asn840His
XM_011530849.2:c.4960A>C	XP_011529151.2:p.Asn1654His
XM_017029259.2:c.4951A>C	XP_016884748.1:p.Asn1651His
XM_017029260.1:c.4942A>C	XP_016884749.1:p.Asn1648His
XM_017029263.2:c.3280A>C	XP_016884752.1:p.Asn1094His
NM_000495.5:c.4927A>C	NP_000486.1:p.Asn1643His
NM_033380.3:c.4945A>C MANE Select	NP_203699.1:p.Asn1649His