Canonical Allele Identifier: CA414133003

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938664G>C (hg19) ; chrX:g.108695434G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695434G>C , CM000685.2:g.108695434G>C	GRCh38
NC_000023.10:g.107938664G>C , CM000685.1:g.107938664G>C	GRCh37
NC_000023.9:g.107825320G>C	NCBI36
NG_011977.1:g.260511G>C
NG_011977.2:g.260511G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4989G>C MANE Select	ENSP00000331902.7:p.Met1663Ile
ENST00000361603.7:c.4971G>C	ENSP00000354505.2:p.Met1657Ile
ENST00000510690.2:n.1483G>C
ENST00000644079.1:n.1820G>C
ENST00000328300.10:c.4989G>C	ENSP00000331902.6:p.Met1663Ile
ENST00000361603.6:c.4971G>C	ENSP00000354505.2:p.Met1657Ile
ENST00000504541.1:c.219+513G>C	ENSP00000424845.1:n.219+513G>C
ENST00000515658.1:c.325-863G>C
NM_000495.4:c.4971G>C	NP_000486.1:p.Met1657Ile
NM_033380.2:c.4989G>C	NP_203699.1:p.Met1663Ile
XM_005262070.2:c.4980G>C	XP_005262127.1:p.Met1660Ile
XM_006724616.2:c.4989G>C	XP_006724679.1:p.Met1663Ile
XM_011530849.1:c.4665G>C	XP_011529151.1:p.Met1555Ile
XM_011530851.1:c.2562G>C	XP_011529153.1:p.Met854Ile
XM_011530849.2:c.5004G>C	XP_011529151.2:p.Met1668Ile
XM_017029259.2:c.4995G>C	XP_016884748.1:p.Met1665Ile
XM_017029260.1:c.4986G>C	XP_016884749.1:p.Met1662Ile
XM_017029263.2:c.3324G>C	XP_016884752.1:p.Met1108Ile
NM_000495.5:c.4971G>C	NP_000486.1:p.Met1657Ile
NM_033380.3:c.4989G>C MANE Select	NP_203699.1:p.Met1663Ile