Canonical Allele Identifier: CA360626093

Gene: MCC

Linked Data

• gnomAD v4: 5-113064024-C-G
• MyVariant Identifiers: chr5:g.112399721C>G (hg19) ; chr5:g.113064024C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113064024C>G , CM000667.2:g.113064024C>G	GRCh38
NC_000005.9:g.112399721C>G , CM000667.1:g.112399721C>G	GRCh37
NC_000005.8:g.112427620C>G	NCBI36
NG_012265.1:g.429807G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302475.9:c.1603G>C	ENSP00000305617.4:p.Val535Leu
ENST00000408903.7:c.2173G>C MANE Select	ENSP00000386227.3:p.Val725Leu
ENST00000302475.8:c.1603G>C	ENSP00000305617.4:p.Val535Leu
ENST00000408903.6:c.2173G>C	ENSP00000386227.3:p.Val725Leu
ENST00000514701.5:c.1603G>C	ENSP00000485220.1:p.Val535Leu
ENST00000515367.6:c.1414G>C	ENSP00000421615.2:p.Val472Leu
ENST00000624689.3:c.17G>C
NM_001085377.1:c.2173G>C	NP_001078846.1:p.Val725Leu
NM_002387.2:c.1603G>C	NP_002378.1:p.Val535Leu
XM_005271991.2:c.1603G>C	XP_005272048.1:p.Val535Leu
XM_005271991.3:c.1603G>C	XP_005272048.1:p.Val535Leu
XM_017009473.1:c.2173G>C	XP_016864962.1:p.Val725Leu
XM_017009474.1:c.1573G>C	XP_016864963.1:p.Val525Leu
XM_024446049.1:c.1414G>C	XP_024301817.1:p.Val472Leu
XM_024446050.1:c.1414G>C	XP_024301818.1:p.Val472Leu
XM_024446051.1:c.1414G>C	XP_024301819.1:p.Val472Leu
XM_024446052.1:c.1414G>C	XP_024301820.1:p.Val472Leu
NM_001085377.2:c.2173G>C MANE Select	NP_001078846.2:p.Val725Leu
NM_002387.3:c.1603G>C	NP_002378.2:p.Val535Leu